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- CHROMOSOME #15 -
NORMAL
Specific
PATIENTINFORMATION for sSMC(15)
References
In general 70% of sSMC carriers are clinically normal. The figures listed above
In general 70% of sSMC carriers are clinically normal. The figures listed above
are based on the bias, that mainly
clinically aberrant cases are studied and reported
in literature!
| UPD (uniparental disomy) cases: | UPD(15)mat | UPD(15)pat | UPD(15)mat or pat |
|
case
no. |
gender/ age at diagnosis |
studied material |
de
novo/ inherited |
GTG-banding
result grade of mosaicism |
final
result of the sSMC |
test methods |
clinical
symptoms |
Reference |
| 15- O- q10/ 1-1 |
male/ prenatal |
CH | de novo | 47,XY,+mar[10] | inv dup(15)(q10) | M-FISH;
cenM; subcenM; UPD-test |
AMA; no ultrasound abnormalities; child born without clinical signs | {1} case 21 |
| 15- O- q10/ 1-2 to 3 |
male/ 20y and 28y |
PBL | de novo | 47,XY,+mar[100%] | inv dup(15)(q10)* | YAC probes as specified in {57}; UPD-test | normal males ascertained because of history of spontaneous abortions or prenatal screening because of AMA | {57} cases 15, 16 {358} case 15-1 {253} case 46 |
| 15- O- q10/ 1-4 |
male/ adult |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15)(q10) | acro-cenM; subcenM |
cytogenetic study due to the fact that no children came in partnership | {170} {184}case 15-84 {256} case 18 {358} case 15-2 |
| 15- O- q10/ 1-5 |
male/ prenatal |
AF | maternal | 47,XY,+mar[100%] | inv dup(15)(q10) | cenM; subcenM |
AMA; no clinical signs in born child or mother | {184} case 15-85 |
| 15- O- q10/ 1-6 |
female/ adult |
PBL | n.a. | 47,XX,+mar[100%] | inv dup(15)(q10) | acro-cenM | clinically normal adult female; 14y old son with obesity and DD | {184}case 15-86 |
| 15- O- q10/ 1-7 |
male/ prenatal |
AF, PBL (EKF- cellbank) |
n.a. | 47,XY,+mar[100%] | inv dup(15)(q10) | cep probes subcenM SNRPN |
AMA, healthy child born | {0} provided by Drs. Prager/ Junge, Dresden, Germany |
| 15- O- q10/ 1-8 |
n.a./ prenatal |
AF | de novo | 47,+mar[20]/ 46[20] |
inv dup(15)(q10) | cep probes wcp 15 |
AMA; no clinical signs in born child at 3y | {199} case 1 |
| 15- O- q10/ 1-9 |
n.a./ prenatal |
AF | maternal | 47,+mar[100%] | inv dup(15)(q10) | cep probes wcp 15 |
AMA; no clinical signs in born child at 5y, mother normal, too | {199} case 2 |
| 15- O- q10/ 1-10 |
male/ adult |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15)(q10) | cep probes wcp 15 |
Detected due to amniocentesis in partner - child with 48,+21,.mar. | {199} father of case 3 |
| 15- O- q10/ 1-11 |
male/ prenatal |
AF | maternal | 47,XY,+mar[100%] | inv dup(15)(q10) | acrocenM; subcenM |
mother normal, sonography of unborn child normal | {0} provided by Dr. Zivi Borochowitz; Israel |
| 15- O- q10/ 2-1 |
male/ adult |
PBL cell line at ECACC DD1316 |
maternal | 47,XY,+mar | dic(15)(pter→cen: :cen→p11:) |
cep 15; GABRB3, D15S11; SNRPN; UPD-test | mar detected due to amniocentesis in partner of this male; male and his mother normal; pregnancy continued | {40} case 17 {51} case JC17 |
| 15- O- q10/ 3-1 |
n.a./ prenatal |
chord blood | de novo | 47,+mar[33]/ 46[8] |
min(15)(pter→q10:)* | cep probes wcp 15 |
AMA; no clinical signs in born child at 2y | {199} case 4 |
| 15- O- q10/ 4-1 |
see 13/21-O-q10/5-1 | |||||||
| 15- O- q11/ 1-1 |
male/ prenatal |
AF, PBL (EKF- cellbank) |
de novo | 47,XY,+mar[20]/ 46,XY[80] |
inv dup(15)(q11) | cenM | ANA; no clinical signs in born child - no signs as well at age of 14 months | {3} case 7 {4} case 7 |
| 15- O- q11/ 1-2 |
female/ prenatal |
AF | paternal | 47,XX,+mar[23]/ 46,XX[1] |
inv dup(15)(q11) | cenM | AMA; no ultrasound abnormalities; marker in father and sister; child born without any clinical signs | {0} provided by Dr. I.
Bartels, Göttingen, Germany |
| 15- O- q11/ 1-3 |
n.a./ prenatal |
AF | paternal | n.a. | inv dup(15)(q11) | acro M | AMA; father normal | {27} case 2 |
| 15- O- q11/ 1-4 |
female/ 1m |
PBL | de novo | 47,XX,+mar[23%]/ 46,XX[77%] |
inv dup(15)(q11)* | all available centromeric probes | normal at age of 21 | {29} case 348 |
| 15- O- q11/ 1-5 |
female/ 1d |
PBL | maternal | 47,XX,+mar[100%] | inv dup(15)(q11)* | all available centromeric probes | died 3.5 hours after birth - no dysmorphic features; mother normal | {29} case 6013 |
| 15- O- q11/ 1-6 |
male/ 1m |
PBL | de novo | 47,XY,+mar[~55%]/ 46,XY[~45%] |
inv dup(15)(q11)* | all available centromeric probes | normal at age of 5y | {29} case 45604 |
| 15- O- q11/ 1-7 to 10 |
male/
female 2x each/ prenatal/ postnatal |
AF/PBL | paternal/ maternal x2/ de novo |
47,+mar[100%] | inv dup(15)(q11) | all available centromeric probes | normal at age of 9y, 21m or after birth (2x) | {35} cases 15-18 |
| 15- O- q11/ 1-11 to 17 |
male/
female 5/2/ prenatal |
AF/PBL | familial pat 4x, mat 3x |
47,+mar[100%] | inv dup(15)(q11) | all available centromeric probes | normal at birth; and/or parents normal | {15} cases 26-32 |
| 15- O- q11/ 1-18 to 20 |
male/
female 1/2/ adult |
PBL | n.a. | 47,+mar[100%] | inv dup(15)(q11) | centromeric probe 15 and 6 single copy probes from 15q11 to 15q13; UPD-test | normal, repeated miscarriage | {47} cases GMO3666;
GM04347 {reported as well in 51} ;
ID15-3 {253} case 47, 48, 49 {358} case 15-3 to 15-5 |
| 15- O- q11/ 1-21 to 25 |
male/
female 1/4/ adult |
PBL | paternal
3x maternal 1x de novo 1x |
47,+mar[100%] | inv dup(15)(q11) | cep 15; GABRB3, D15S11; SNRPN; UPD-test | normal; Ref {40} case 8 with amenorrhea → infertility | {40} cases 8, 10, 11,
12, 15 = {51} cases JC8, JC10; -;
JC12; -; JC15 {253} case 50; - 51, -,- {358} case 15-6 and 15-7 |
| 15- O- q11/ 1-26 |
female/ 32y |
PBL | n.a. | 47,XX,+mar[100%] | inv dup(15)(q11) | centromeric probes | normal apart from unclear sterility in partnership | {49} case 2 {253} case 52 {358} case 15-8 |
| 15- O- q11/ 1-27 |
male/ prenatal |
AF | maternal | 47,XY,+mar[100%] | inv dup(15)(q11) |
no FISH
done |
normal mother and child | {62} {71} case 5 |
| 15- O- q11/ 1-28 |
male/ prenatal |
AF | maternal | 47,XY,+mar | inv dup(15)(q11) | centromeric probes, SNRPN; UPD-test | normal mother and child | {180} case 17 |
| 15- O- q11/ 1-29 |
male/ postnatal |
PBL | n.a. | 47,XY,+mar | inv dup(15)(q11) | centromeric probes, SNRPN; UPD-test | normal father; sSMC in unborn child; no info on child available | {180} case 18 |
| 15- O- q11/ 1-30 |
male/ postnatal |
PBL | n.a. | 47,XY,+mar | inv dup(15)(q11) | n.a. | normal father; sSMC in unborn child; no info on child available | {197} case listed in Table 3 - no individual number |
| 15- O- q11/ 1-31 |
male/ postnatal |
PBL | n.a. | 47,XY,+mar | inv dup(15)(q11) | n.a. | normal
male - infertility |
{205} 1 case, no
individual number {253} case 53 {358} case 15-9 |
| 15- O- q11/ 1-32 |
female/ prenatal |
AF | de novo | 47,XX,+mar[100%] | inv dup(15)(q11) | wcp 15, PWS/AS-region probe | Amniocentesis due to elevated maternal serum; normal child born | {208} case 2 |
| 15- O- q11/ 1-33 |
female/ 29y |
PBL | paternal | 47,XX,+mar[100%] | inv dup(15)(q11) | midi | repeated abortions | {37} case 3 {253} case 54 {358} case 15-10 |
| 15- O- q11/ 1-34 to 35 |
male/ adult |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15)(q11) | cep probes | ICSI patients | {118} 2 cases {253} case 55-56 {358} case 15-11 and 15-12 |
| 15- O- q11/ 1-36 |
male/ adult |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15)(q11) | DAPI | detected due to sSMC in unborn child | {139} father of case 6 |
| 15- O- q11/ 1-37 |
male/ adult |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15)(q11) | DAPI | severe OAT | {163} case C97/362 {253} case 57 {358} case 15-13 |
| 15- O -q11/ 1-38 to 39 |
male/ prenatal |
AF | n.a. | 47,XY,+mar[100%] | inv dup(15)(q11) | cep probes; UPD-test in one case | normal at 6y and 3y | {180} cases 4, 14 |
| 15- O- q11/ 1-40 |
male/ 29y |
PBL; sperm; embryos after IVF | paternal | 47,XY,+mar[100%] | inv dup(15)(q11)* | midi; cep probes |
normal male with normozoospermia | {271} |
| 15- O- q11/ 1-41 |
male/ 28y |
PBL | n.a. | 47,XY,+mar[41]/ 46,XY[9] |
inv dup(15)(q11)* | cep; subcenM | normal male with infertility | {358} case 15-14 |
| 15- O- q11/ 1-42 |
male/ 41y |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15)(q11)* | cep; subcenM | normal male with infertility | {358} case 15-15 |
| 15- O- q11/ 1-43 |
male/ 41y |
PBL (EKF- cellbank) |
n.a. | 47,XY,+mar[100%] | inv dup(15)(q11) | cep; subcenM | normal male with infertility | {358} case 15-16 |
| 15- O- q11/ 1-44 to 1-47 |
male/ adult |
PBL | n.a. | 47,XY,+mar[?100%] | inv dup(15)(q11) | cep probes | normal males with infertility | {337} 4 cases {358} case 15-17 to 15-20 |
| 15- O- q11/ 1-48 |
female/ adult |
BM | n.a. | 47,XX,+mar[100%] | inv dup(15)(q11)* | cep probes | normal female; detected as bine marrow of her was donated for a person suffering from leukemia | {367} |
| 15- O- q11/ 1-49 |
male/ prenatal |
AF | mat | 47,XY,+mar[100%] | inv dup(15)(q11) | cep probes M-FISH |
mother normal
female |
{369} case 4 |
| 15- O- q11/ 2-1 |
male/ 27y |
PBL | maternal (mother with one mar in all cells) |
48,XY,+marx2[100%] | inv dup(15)(q11) | n.a. | normal male studied due to 3 miscarriages of female partner | {54} {253} case 58 {358} case 15-21 |
| 15- O- q11/ 2-2 |
female/ 40y |
PBL | paternal father with one sSMC only |
48,XX,+marx2[100%] | inv dup(15)(q11) | centromeric probes | normal apart from unclear sterility in partnership | {150} {253} case 59 {358} case 15-22 |
| 15- O- q11/ 2-3 |
female/ 32y |
PBL | de novo | 48,XX,+marx2[100%] | inv dup(15)(q11) | centromeric probes | normal apart from unclear sterility in partnership | {107} case 2 {253} case 60 {358} case 15-23 |
| 15- O- q11/ 3-1 |
male/ prenatal |
AF | familial i.e. mother and grand- father with inv dup(15) (q11)* |
47,XY,+r[8]/ 46,XY[12] mar in 20% of chord blood and 58% each in placenta and chord tissue |
r(15)(::p11→q11::)* | cep 15; SNRPN | Amniocentesis due to elevated maternal serum alpha fetoprotein and diabetes; pregnancy and delivery normal; child normal with 1y | {77} |
| 15- O- q11/ 4-1 |
male/ 39y |
PBL | n.a. | 47,XY,+mar[100%] | min(15)(:p11→q11:) | cenM; subcenM | normal male with infertility (sperm 5-8million/ml) | {208} case 3 {253} case 61 {358} case 15-24 |
| 15- O- q11/ 4-2 |
female/ 48y |
PBL (EKF- cellbank) |
n.a. | 47,XX,+mar[100%] | min(15)(:p11→q11:) | wcp 15 | normal female | {0} provided by Dr. Kunze, Berlin, Germany |
| 15- O- q11.1/ 1-1 |
female/ 32y |
PBL | n.a. | 47,XX,+mar[?]/ 46,XX[?] |
inv dup(15)(q11.1) | acro-cenM | detected during ICSI course; no clinical symptoms | {184} case 15-121 {253} case 62 {358} case 15-25 |
| 15- O- q11.1/ 1-2 to 4 |
female and
male2x/ prenatal |
AF | de novo/ paternal 1x | 47,+mar[80%
or 100%]/ 46[20% or 0%] |
inv dup(15)(q11.1) | all available centromeric probes; UPD-test in cases 4 and 15 | AMA or abnormal serum biochemistry; children normal at 9m, 6w or 13m | {36} cases 4, 7, 15 |
| 15- O- q11.1/ 1-5 |
male/ adult |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15)(q11.1) | acro-cenM | Detected due to clinical abnormal 2y old son with psychomotor retardation - especially concerning the language due to dwarphism, minor cleft palate, microcephaly | {184} case 15-125 |
| 15- O- q11.1/ 1-6 |
female/ 18y |
PBL | n.a. | 47,XX,+mar[100%] | inv dup(15)(q11.1) | acro-cenM | clinically normal apart from 2 years of amenorrhea | {184}case 15-126 {253} case 63 {358} case 15-26 |
| 15- O- q11.1/ 1-7 |
male/ 36y |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15)(q11.1) | cep probes subcenM |
clinically normal | {0} provided by Dr. S. Neubauer, Nürnberg, Germany |
| 15- O- q11.1/ 1-8 |
female/ prenatal |
AF | de novo | 47,XX,+mar[99%]/ 46,XX[1%] |
inv dup(15)(q11.1) | acro-cenMs subcenM; UPD-test |
child born clinically normal | {0} provided by Drs. Schulze and Schmidt, Hannover, Germany |
| 15- O- q11.1/ 1-9 |
male/ prenatal |
AF | n.a. | 47,XY,+mar[mos] | inv dup(15)(q11.1) | cep probes subcenM |
AMA; no ultrasound abnormalities | {0} provided by Dr. J.
Vermeesch, Leuven, Belgium |
| 15- O- q11.1/ 1-10 |
female/ prenatal |
AF, PBL (EKF- cellbank) |
de novo | 47,XX,+mar[30%]/ 46,XX[70%] |
inv dup(15)(q11.1) | cenM,
acro-cenM subcenM; UPD-test |
AMA; no ultrasound abnormalities; normal child born; | {0} provided by Dr.
Pruggmeier, Peine, Germany |
| 15- O- q11.1/ 1-11 |
male/ 15y |
PBL (EKF- cellbank) |
maternal (marker in mosaic) | 47,XY,+mar[98%]/ 46,XY[2%] |
inv dup(15)(q11.1) | acro-cenM subcenM |
no symptoms in mother and child | {0} provided by Dr.
Küpferling, Cottbus, Germany |
| 15- O- q11.1/ 1-12 |
female/ adult |
PBL | n.a. | 47,XX,+mar[100%] | inv dup(15)(q11.1) | acro-cenM subcenM |
sSMC detected in normal mother due to a severely handicapped child with the same sSMC; reason for clinical symptoms in child not clear | {256} case 13 |
| 15- O- q11.1/ 1-13 |
female/ adult |
PBL | n.a. | 47,XX,+mar[100%] | inv dup(15)(q11.1) | centromeric
probes subcenM; SNRPN- |
see below | {0} provided by Dr.
Mehnert, Neu-Ulm, Germany |
| sSMC detected in normal mother due to monozygotic twin pregnancy: twin 1 with suspicious profile of the face (mouth was open) - was normal in next US; twin 2 normal (also marker chromosome in karyotype) | ||||||||
| 15- O- q11.1/ 1-14 |
female/ prenatal |
AF | n.a. | 47,XX,+mar[100%] | inv dup(15)(q11.1) | cenM subcenM |
normal child born | {0} provided by Carme Fuster, Barcelona, Spain |
| 15- O- q11.1/ 1-15 |
female/ adult |
PBL | n.a. | 47,XX,+mar[100%] | inv dup(15)(q11.1) | CGH,
HR-CGH subcenM |
normal female | {0} provided by Carme Fuster, Barcelona, Spain |
| 15- O- q11.1/ 1-16 |
female/ adult |
PBL (EKF- cellbank) |
n.a. | 47,XX,+mar[28%]/ 46,XX[72%] |
inv dup(15)(q11.1) | centromeric probes subcenM | normal female, child with sSMC abnormal nut no AS or PWS | {0} provided by Dr. A. Dufke, Tübingen, Germany |
| 15- O- q11.1/ 1-17 |
female/ 37y |
PBL | n.a. | 47,XX,+mar [100%] | inv dup(15)(q11.1) | centromeric probes subcenM, LSI UBE3A | normal father; sSMC in unborn child; no info on child available | {197} case listed in Table 3 - no individual number |
| 15- O- q11.1/ 1-18 |
male/ prenatal |
AF | n.a. | 47,XY,+mar [100%] | inv dup(15)(q11.1) | centromeric probes subcenM; UPD-test | AMA, child born by sectio; weight 3320g, length 50cm, OFC 35 cm, normal APGAR. No external malformations; child normal at 6m | {0} case provided by Dr. Heilbronner,, Stuttgart, Germany |
| 15- O- q11.1/ 1-19 |
female/ prenatal |
CH |
maternal | 47,XX,+mar [100%] | inv dup(15)(q11.1) | centromeric probes subcenM | CVS due to AMA, marker present also in clinically normal mother | {0} provided by Dr. Riegel, Zürich, Switzerland |
| 15- O- q11.1/ 1-20 |
male/ prenatal |
AF | de novo | 47,XY,+mar[60%]/ 46,XY[40%] |
inv dup(15)(q11.1) | centromeric probes subcenM | AMA, normal child born, normal at 1 month | {298} case 1 |
| 15- O- q11.1/ 1-21 |
female/ 36y |
PBL (EKF- cellbank) |
n.a. | 47,XX,+mar[100%] | inv dup(15)(q11.1) | acrocenM subcenM | Cytogenetics due to birth of a child with Down-syndrome like clinical signs and same sSMC | {0} provided by Dr. Niemann, Overath, Germany |
| 15- O- q11.1/ 1-22 |
female/ prenatal |
AF, PBL (EKF- cellbank) |
maternal | 47,XX,+mar[100%] | inv dup(15)(q11.1) | acrocenM subcenM | AMA, normal child born, normal at 6 month, mother normal, too | {298}case 4 |
| 15- O- q11.1/ 1-23 to 26 |
n.a./ prenatal |
AF | de novo | 47,+mar[?100%] | inv dup(15)(q11.1) | cep probes | AMA or other reasons, normal children born | {48} 4 cases |
| 15- O- q11.1/ 1-27 to 28 |
n.a./ prenatal |
AF | paternal | 47,+mar[?100%] | inv dup(15)(q11.1) | cep probes | AMA or other reasons, normal children born | {48} 2 cases |
| 15- O- q11.1/ 1-29 to 31 |
n.a./ prenatal |
AF | maternal | 47,+mar[?100%] | inv dup(15)(q11.1) | cep probes | AMA or other reasons, normal children born | {48} 3 cases |
| 15- O- q11.1/ 1-32 to 34 |
n.a./ postnatal |
PBL | de novo | 47,+mar[?100%] | inv dup(15)(q11.1) | cep probes | normal adults, studied to different reasons apart from infertility | {48} 3 cases |
| 15- O- q11.1/ 1-35 to 37 |
male/ postnatal |
PBL | 3x maternal | 47,XY,+mar[?100%] | inv dup(15)(q11.1) | cep probes | normal males with azoospermia | {48} cases 1, 3, 4 {253} case 64-66 {358} case 15-27 to 15-29 |
| 15- O- q11.1/ 1-38 |
male/ postnatal |
PBL | paternal | 47,XY,+mar[?100%] | inv dup(15)(q11.1) | cep probes | normal male with OAT 3 and seminoma | {48} case 6 {253} case 67 {358} case 15-30 |
| 15- O- q11.1/ 1-39 |
male/ postnatal |
PBL | de novo | 47,XY,+mar[?100%] | inv dup(15)(q11.1) | cep probes | normal male with azoospermia | {48} case 5 {253} case 68 {358} case 15-31 |
| 15- O- q11.1/ 1-40 |
male/ adult |
PBL | n.a. | 47,XY,+mar[7]/ 46,XY[3] |
inv dup(15)(q11.1) | acrocenM, subcenM | detected due to sSMC in unborn son | {0} provided by Dr. Anna Polityko, Minsk, Belarus |
| 15- O- q11.1/ 1-41 |
male/ 34y |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15)(q11.1) | cep probes, subcenM | normal male with OAT syndrome | {253} case 69 {358} case 15-32 |
| 15- O- q11.1/ 1-42 |
male/ 41y |
PBL sperm |
familial | 47,XY,+mar[100%] sSMC in 17.2% of sperm only |
inv dup(15)(q11.1) | cep probes, SNRPN, PML | normal male with OAT syndrome; sSMC and OAT syndrome in 38y old brother as well | {214} {253} case 70 {358} case 15-33 |
| 15- O- q11.1/ 1-43 |
male/ prenatal |
AF | maternal | 47,XY,+mar[100%] | inv dup(15)(q11.1) | cep probes, subcenM; UPD-test | AMA, mother normal | {0} provided by Dr. Thiel, Berlin, Germany |
| 15- O- q11.1/ 1-44 |
male/ prenatal |
AF | de novo | 47,XY,+mar[100%] | inv dup(15)(q11.1) | acrocenM,
subcenM, LSI UBE3A |
AMA (?); normal child born at term | {0} provided by Drs. Soraya Reyno / Rina Bruzzone, Montevideo, Uruguay |
| 15- O- q11.1/ 1-45 |
female/ 16y |
PBL | n.a. | 47,XX,+mar[52%]/ 46,XX[48%] |
inv dup(15)(q11.1) | acrocenM, subcenM | female with primary amenorrhea | {253} case 71 {358} case 15-34 |
| 15- O- q11.1/ 1-46 |
female/ 28y |
PBL | n.a. | 47,XX,+mar[23%]/ 46,XX[77%] |
inv dup(15)(q11.1) | cenM, subcenM | repeated abortions | {253} case 72 {358} case 15-35 |
| 15- O- q11.1/ 1-47 |
male/ adult |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15)(q11.1) | cenM, subcenM | normal male with fertility problems - prior ICSI | {358} case 15-36 |
| 15- O- q11.1/ 1-48 |
female/ 32y |
PBL | n.a. | 47,XX,+mar[4]/ 46,XX[21] |
inv dup(15)(q11.1) | cenM, subcenM | normal female, infertille | {358} case 15-37 |
| 15- O- q11.1/ 1-49 |
male/ 32y |
PBL (EKF- cellbank) |
n.a. | 47,XY,+mar[64%]/ 46,XY[36%] |
inv dup(15)(q11.1) | cenM, subcenM | normal male with infertility | {358} case 15-38 |
| 15- O- q11.1/ 1-50 |
male/ prenatal |
PBL | paternal | 47,XY,+mar[?%]/ 46,XY[?%] |
inv dup(15)(q11.1) | cenM, subcenM | pregnancy outcome not known - mother normal at 30y | {256} case 21 |
| 15- O- q11.1/ 1-51 |
male/ postnatal |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15)(q11.1) | cenM, subcenM | normal male, repeated abortions in female partner | {256} case 17 {358} case 15-39 |
| 15- O- q11.1/ 1-52 |
female/ postnatal |
PBL | n.a. | 47,XX,+mar[100%] | inv dup(15)(q11.1) | cenM, subcenM | adult - normal; studied due to pregnancy with enhanced nuchal translucency which turned out as Down syndrome | {0} provided by Dr. Petersen, Athens, Greece |
| 15- O- q11.1/ 1-53 |
n.a./ prenatal |
AF | n.a. | 47,XY,+mar[85]/ 46,XY[15] |
inv dup(15)(q11.1) | cenM, subcenM; UPD-test | AMA, normal child born | {298} case 2 |
| 15- O- q11.1/ 1-54 |
male/ prenatal |
AF | n.a. | 47,XY,+mar[16]/ 46,XY[4] |
inv dup(15)(q11.1) | cenM, subcenM | AMA, normal child born - no follow-up data available | {0} provided by Dr. Kistner, Schwerin, Germany |
| 15- O- q11.1/ 1-55 |
female/ 37y |
PBL | n.a. | 47,XX,+mar[100%] | inv dup(15)(q11.1) | acrocenM, subcenM | normal female; unfulfilled wish for children | {358} case 15-40 |
| 15- O- q11.1/ 1-56 |
male/ 32y |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15)(q11.1) | acrocenM, subcenM | normal male; unfulfilled wish for children | {358} case 15-41 |
| 15- O- q11.1/ 1-57 |
male/ prenatal |
CH | n.a. | 47,XY,+mar[100%] | inv dup(15)(q11.1) | acrocenM, subcenM | AMA, normal child born | {0} provided by Dr. Duba, Linz, Austria |
| 15- O- q11.1/ 1-58 |
male/ 43y |
PBL | n.a. | 47,XY,+mar[26]/ 46,XY[24] |
inv dup(15)(q11.1) | acrocenM, subcenM | Normal male, abortion with mar in partner | {358} case 15-42 |
| 15- O- q11.1/ 1-59 |
female/ prenatal |
AF | n.a. | 47,XX,+mar[100%] | inv dup(15)(q11.1) | cep probes, subcenM | AMA, normal child born | {0} provided by Dr. Hickmann, Düsseldorf, Germany |
| 15- O- q11.1/ 1-60 |
male/ 36y |
PBL | n.a. | 47,XY,t(3;12)(q21;q13.1), +mar[100%] |
inv dup(15)(q11.1) | acrocenM subcenM | AMA mother normal | {0} provided by Dr. Kunz, Berlin, Germany |
| 15- O- q11.1/ 1-61 |
female/ prenatal |
CH | mat | 47,XX,+mar[100%] | inv dup(15)(q11.1) | acrocenM subcenM | normal male, infertility | {358} case 15-43 |
| 15- O- q11.1/ 1-62 |
male/ 36y |
PBL (EKF- cellbank) |
n.a. | 47,XY,+mar[100%] | inv dup(15)(q11.1) | acrocenM subcenM | normal male, infertility | {358} case 15-44 |
| 15- O- q11.1/ 1-63 |
female/ prenatal |
AF | familial | 47,XX,+mar[83%]/ 46,XX[17%] |
inv dup(15)(q11.1) | cep probes subcenM |
AMA; no clinical signs in born child or parents | {0} provided by Dr. J.
Vermeesch, Leuven, Belgium |
| 15- O- q11.1/ 1-64 |
male/ 24y |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15)(q11.1) | acrocenM; subcenM | detected due to transsexual diagnostics | {0} provided by Dr. Schreyer, Jena, Germany |
| 15- O- q11.1/ 1-65 |
female/ prenatal |
PBL (EKF- cellbank) |
n.a. | 47,XX,+mar[35]/ 46,XX[20] |
inv dup(15)(q11.1) | acrocenM; subcenM | AMA; no clinical signs in born child at 6m | {0} provided by Dr. Tittelbach, Nürnberg, Germany |
| 15- O- q11.1/ 1-66 |
male/ 39y |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15)(q11.1) | acrocenM; subcenM | infertility, OAT syndrome | {358} case 15-45 |
| 15- O- q11.1/ 1-67 to 68 |
1 female 1 male/ adult |
PBL | n.a. | 47,+mar[100%] | inv dup(15)(q11.1) | acrocenM; subcenM | normal male and female with infertility | {358} case 15-46 to 15-47 |
| 15- O- q11.1/ 1-69 |
male/ 35y |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15)(q11.1) | acrocenM; subcenM | normal male and female with infertility | {358} case 15-48 |
| 15- O- q11.1/ 1-70 |
female/ adult |
PBL | n.a. | 47,XX,+mar[14] | inv dup(15)(q11.1) | cep probes; subcenM | normal female, detected ue to sSMC in unborn child | {0} provided by Dr. Rubtsov, Novosibirsk, Russia |
| 15- O- q11.1/ 1-71 |
female/ 42y |
PBL | n.a. transmitted sSMC to her fetus |
47,XX,+mar[100%] | inv dup(15)(q11.1) | cep probes; aCGH | normal female, primary infertile | {310} patient 3 {358} case 15-49 {359} |
| 15- O- q11.1/ 1-72 |
male/ 30y |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15)(q11.1) | acrocenM; subcenM | normal male, infertile | {358} case 15-50 {359} |
| 15- O- q11.1/ 1-73 |
male/ 33y |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15)(q11.1) | acrocenM; subcenM | normal male,tumor in family | {0} provided by Dr. Borochowitz, Israel |
| 15- O- q11.1/ 1-74 |
male/ prenatal |
AF | maternal (mother has sSMC twice) |
47,XY,+mar[100%] | inv dup(15)(q11.1) | acrocenM; subcenM | AMA, mother normal | {0} provided by Dr. Huhle, Leipzig, Germany |
| 15- O- q11.1/ 1-75 |
female/ 36y |
PBL | n.a. | 47,XX,+mar[100%] | inv dup(15)(q11.1)* aCGH-data: no imbalance detected |
cep 15, aCGH | normal female with premature ovarian failure | {314} {358} case 15-51 |
| 15- O- q11.1/ 1-76 |
female/ 27y |
PBL | n.a. | 47,XX,+mar[100%] | inv dup(15)(q11.1) | cep 15 | normal female with infertility | {319} {358} case 15-52 |
| 15- O- q11.1/ 1-77 |
female/ adult |
PBL (EKF- cellbank) |
n.a. | 47,XX,+mar[50%]/ 46,XX[50%] |
inv dup(15)(q11.1) | ceps, subcenM |
normal female with infertility | {358} case 15-53 |
| 15- O- q11.1/ 1-78 |
male/ postnatal |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15)(q11.1) | ceps, subcenM |
normal male, sSMC detected due to pregnancy of wife with sSMC | {0} provided by Dr. Vellisario, Greece |
| 15- O- q11.1/ 1-79 |
male/ 25y |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15)(q11.1) | ceps, subcenM |
normal male with infertility | {358} case 15-54 |
| 15- O- q11.1/ 1-80 |
female/ adult |
PBL (EKF- cellbank) |
n.a. | 47,XX,+mar[?100%] | inv dup(15)(q11.1) | ceps, subcenM |
normal female with infertility | {358} case 15-55 |
| 15- O- q11.1/ 1-81 |
female/ prenatal |
AF, PBL (EKF- cellbank) |
de novo | 47,XX,+mar[100%] | inv dup(15)(q11.1) | ceps, subcenM, UPD-test |
normal sonography, AMA, normal child born | {0} provided from Romania |
| 15- O- q11.1/ 1-82 |
male/ 43y |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15)(q11.1) | ceps, subcenM |
normal male with infertility | {358} case 15-56 |
| 15- O- q11.1/ 1-83 |
male/ 44y |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15)(q11.1) | ceps, subcenM |
normal male with infertility | {358} case 15-57 |
| 15- O- q11.1/ 1-84 |
female/ prenatal |
AF, PBL (EKF- cellbank) |
maternal | 47,XX,+mar[100%] | inv dup(15)(q11.1) | ceps, subcenM |
prenatally detected - then also found in normal mother | {0} provided by Dr. Tittelbach, Nuremberg, Germany |
| 15- O- q11.1/ 1-85 |
male/ prenatal |
AF, PBL (EKF- cellbank) |
n.a. | 47,XY,+mar[100%] | inv dup(15)(q11.1) | ceps, subcenM |
prenatally detected; normal child born | {0} provided by Dr.L. Rodriguez, Spain |
| 15- O- q11.1/ 1-86 |
n.a./ prenatal |
fetal PBL | maternal | 47,XN,+mar[?%] | inv dup(15)(q11.1) | n.a. | prenatally detected; normal child born, mother normal | {332; 349} case 1 {333 parent} |
| 15- O- q11.1/ 1-87 |
n.a./ prenatal |
fetal PBL | paternal | 47,XN,+mar[?%] | inv dup(15)(q11.1) | n.a. | prenatally detected; normal child born, father normal | {332; 349} case 2 {333 parent} |
| 15- O- q11.1/ 1-88 |
n.a./ postnatal |
PBL | n.a. | 47,XN,+mar[mos?%] | inv dup(15)(q11.1) | n.a. | normal | {333} |
| 15- O- q11.1/ 1-89 to 94 |
n.a./ postnatal |
PBL | n.a. | 47,XN,+mar[100%] | inv dup(15)(q11.1) | n.a. | normal | {333} |
| 15- O- q11.1/ 1-95 |
male/ 41y |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15)(q11.1) | acrocenM; subcenM | normal but infertility | {358} case 15-58 |
| 15- O- q11.1/ 1-96 |
male/ 37y |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15)(q11.1) | acrocenM; subcenM | normal but infertility | {358} case 15-59 |
| 15- O- q11.1/ 1-97 |
male/ 41y |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15)(q11.1) | acrocenM; subcenM | normal but infertility | {358} case 15-60 |
| 15- O- q11.1/ 1-98 |
male/ 36y |
PBL (EKF- cellbank) |
n.a. | 47,XY,+mar[100%] | inv dup(15)(q11.1) | acrocenM; subcenM | normal but infertility | {358} case 15-61 |
| 15- O- q11.1/ 1-99 |
female/ 30y |
PBL (EKF- cellbank) |
n.a. | 47,XX,+mar[15]/ 46,XX[85] |
inv dup(15)(q11.1) | acrocenM; subcenM | normal | {0} |
| 15- O- q11.1/ 1-100 |
male/ 35y |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15)(q11.1) | acrocenM; subcenM | normal but infertility | {358} case 15-62 |
| 15- O- q11.1/ 1-101 |
female/ 23y |
PBL (EKF- cellbank) |
pat | 47,XX,+mar[100%] | inv dup(15)(q11.1) | acrocenM; subcenM | normal; studied due to transsexuality; father normal | {0} provided by Dr. Welling, Münster, Germany |
| 15- O- q11.1/ 1-102 |
male/ 30y |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15)(q11.1) | cep subcenM |
normal but infertility | {0} provided by Dr. Reif, Dresden, Germany |
| 15- O- q11.1/ 1-103 |
male/ 34y |
PBL | n.a. |
47,XY,t(5p;12q), +mar[100%] |
inv dup(15)(q11.1) | cep subcenM |
normal but infertile | {0} provided by Dr. Manolakos, Athens, Greece |
| 15- O- q11.1/ 1-104 |
male/ adult |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15)(q11.1) | cep subcenM |
normal but infertile | {0} provided by Bioiatriki, Athens, Greece |
| 15- O- q11.1/ 1-105 |
female/ 36y |
PBL | de novo |
47,XX,+mar[25]/ 46,XX[25] |
inv dup(15)(q11.1) | cep subcenM |
normal but infertile | {0} provided by Reprogenet, Spain |
| 15- O- q11.1/ 1-106 |
female/ prenatal |
AF | de novo | 47,XX,+mar[100%] | inv dup(15)(q11.1) | cep subcenM |
normal child born and normal at 2.5 years | {0} |
| 15- O- q11.1/ 1-107 |
female/ adult |
PBL (EKF- cellbank) |
n.a. |
47,XX,+mar[12]/ 46,XX[8] |
inv dup(15)(q11.1) | cep subcenM |
normal but infertile | {0} provided by Reprogenet, Spain |
| 15- O- q11.1/ 1-108 |
female/ adult |
PBL | n.a. | 47,XX,+mar[50%]/ 46,XX[50%] |
inv dup(15)(q11.1) | cep subcenM |
normal but infertile | {0} provided by Dr. Spiros, Greece |
| 15- O- q11.1/ 1-109 |
female/ 29y |
AF and PBL | n.a. | 47,XX,+mar[100%] | inv dup(15)(q11.1) | cep subcenM |
normal, sSMC prenatally detected ; now pregnant | {0} provided by Dr. Belitz, Berlin, Germany |
| 15- O- q11.1/ 1-110 |
female/ adult |
PBL | n.a. | 47,XX,+mar[50%]/ 46,XX[50%] |
inv dup(15)(q11.1) | cep subcenM |
normal but infertile | {0} provided by Dr. Manolakis, Athens, Greece |
| 15- O- q11.1/ 1-111 |
female/ 28y |
PBL | n.a. | 47,XX,+mar[100%] | inv dup(15)(q11.1) | cep subcenM |
normal but infertile | {0} |
| 15- O- q11.1/ 1-112 |
male/ adult |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15)(q11.1) | cep subcenM |
normal but infertile | {0} provided from Portugal |
| 15- O- q11.1/ 1-113 |
female/ adult |
PBL | mat | 47,XX,+mar[100%] | inv dup(15)(q11.1) | cep subcenM |
normal but infertile | {0} provided from India |
| 15- O- q11.1/ 1-114 |
female/ 29y |
PBL | n.a. |
47,XX,+mar[9]/ 46,XX[1] |
inv dup(15)(q11.1) | cep subcenM |
normal but infertile | {0} provided by Reprogenet, Spain |
| 15- O- q11.1/ 1-115 |
male/ 32y |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15)(q11.1) | cep subcenM |
normal but infertile | {0} provided by Reprogenet, Spain |
| 15- O- q11.1/ 1-116 |
female/ 24y |
PBL | n.a. | 47,XX,+mar[100%] | inv dup(15)(q11.1) | cep subcenM |
normal but infertile | {0} provided from Armenia |
| 15- O- q11.1/ 1-117 |
female/ 16y |
PBL | n.a. | 47,XX,+mar[100%] | inv dup(15)(q11.1) | cep subcenM |
normal but transsexual, thus, cytogenetic study done | {0} provided from Essen, Germany |
| 15- O- q11.1/ 1-118 |
male/ 42y |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15)(q11.1) | cep subcenM |
normal but infertile | {0} provided from Poland |
| 15- O- q11.1/ 1-119 |
male/ 32y |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15)(q11.1) | cep subcenM |
normal but infertile | {0} provided from Essen, Germany |
| 15- O- q11.1/ 1-120 |
male/ 13y |
PBL | paternal | 47,XY,+mar[100%] | inv dup(15)(q11.1) | cep subcenM |
normal
father; symptoms of child n.a. |
{0} provided from Hannover, Germany |
| 15- O- q11.1/ 1-121 |
male/ 32y |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15)(q11.1) | cep subcenM |
normal but infertile | {0} provided from Essen, Germany |
| 15- O- q11.1/ 1-122 |
male/ adult |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15)(q11.1) | cep subcenM |
normal but infertile | {0} provided from Spain |
| 15- O- q11.1/ 1-123 |
male/ 38y |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15)(q11.1) | cep subcenM |
normal but infertile | {0} provided from Essen, Germany |
| 15- O- q11.1/ 1-124 |
female/ adult |
PBL | n.a. |
47,XX,+mar[9]/ 46,XX[21] |
inv dup(15)(q11.1) | cep subcenM |
normal but infertile | {0} provided from Portugal |
| 15- O- q11.1/ 1-125 |
female/ 30y |
PBL | n.a. | 47,XX,+mar[100%] | inv dup(15)(q11.1) | cep subcenM |
normal but daughter with MR | {0} provided from Poland |
| 15- O- q11.1/ 1-126 |
female/ 24y |
PBL |
n.a. | 47,XX,+mar[100%] | inv dup(15)(q11.1) | cep subcenM |
normal but transsexual, thus, cytogenetic study done | {0} |
| 15- O- q11.1/ 1-127 |
male/ adult |
PBL (EKF- cellbank) |
n.a. | 47,XY,+mar[100%] | inv dup(15)(q11.1) | cep subcenM |
normal but infertile | {0} provided from Spain |
| 15- O- q11.1/ 1-128 |
female/ adult |
PBL |
n.a. | 47,XX,+mar[100%] | inv dup(15)(q11.1) | cep subcenM |
normal but infertile | {0} provided from Essen, Germany |
| 15- O- q11.1/ 1-129 |
male/ 38y |
PBL |
n.a. | 47,XY,+mar[100%] | inv dup(15)(q11.1) also microdup in 6q25.3~26 |
cep aCGH |
normal but infertile | {394} |
| 15- O- q11.1/ 1-130 |
male/ adult |
PBL |
n.a. | 47,XX,+mar[100%] | inv dup(15)(q11.1) | cep subcenM |
normal but infertile | {0} provided from Greece |
| 15- O- q11.1/ 1-131 |
male/ adult |
PBL |
n.a. | 47,XY,+mar[100%] | inv dup(15)(q11.1) | cep subcenM |
normal but infertile | {0} provided from Essen, Germany |
| 15- O- q11.1/ 1-132 |
male/ adult |
PBL |
de novo | 47,XY,+mar[100%] | inv dup(15)(q11.1) | cep subcenM |
normal but infertile | {0} provided from Leipzig, Germany |
| 15- O- q11.1/ 1-133 |
male/ adult |
PBL |
n.a. | 47,XY,+mar[100%] | inv dup(15)(q11.1) | cep subcenM |
normal but infertile | {0} provided from Essen, Germany |
| 15- O- q11.1/ 1-134 |
female/ 40y |
PBL |
n.a. | 47,XX,+mar[100%] | inv dup(15)(q11.1) | cep subcenM |
normal but infertile | {0} provided from Uruguay |
| 15- O- q11.1/ 1-135 |
male/ adult |
PBL |
n.a. | 47,XY,+mar[100%] | inv dup(15)(q11.1) | cep |
normal but infertile; severe oligozoospermia | {402} case 1 |
| 15- O- q11.1/ 1-136 |
female/ prenatal |
AF |
maternal 47,XX,+mar[15]/ 46,XX[35] |
47,XX,+mar[100%] | inv dup(15)(q11.1) | cep aCGH |
mother and child normal | {404} |
| 15- O- q11.1/ 1-137 |
male/ 18y |
PBL |
maternal |
47,XY,+mar[100%] | inv dup(15)(q11.1) | cep |
mother normal; male was studied due to teeth abnormalities | {405} |
| 15- O- q11.1/ 1-138 to 1-142 |
n.a./ adult |
PBL |
n.a. | 47,XN,+mar[100%] | inv dup(15)(q11.1) | cep; BACs |
normal, but infertile | {409} 5 cases |
| 15- O- q11.1/ 1-143 to 1-159 |
n.a./ adult |
PBL |
n.a. | 47,XN,+mar[100%] | inv dup(15)(q11.1) | cep |
normal, but infertile | {410} 17 cases |
| 15- O- q11.1/ 1-160 |
female/ prenatal |
AF |
maternal |
47,XX,+mar[100%] | inv dup(15)(q11.1) | cep |
mother normal | {0} provided from Aachen, Germany |
| 15- O- q11.1/ 1-161 |
male/ 44y |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15)(q11.1) | cep subcenM |
normal but infertile | {0} provided by Reprogenet, Spain |
| 15- O- q11.1/ 1-162 |
female/ 22y |
PBL | n.a. |
47,XX,+mar[100%] | inv dup(15)(q11.1) | cep subcenM |
normal, but infertile | {0} provided from Magdeburg, Germany |
| 15- O- q11.1/ 1-163 |
female/ 25y |
PBL | n.a. |
47,XX,+mar[25]/ 46,XX[5] |
inv dup(15)(q11.1) | cep subcenM |
normal, but infertile | {0} provided from Recklinghausen, Germany |
| 15- O- q11.1/ 1-164 |
female/ 30y |
PBL | n.a. |
47,XX,+mar[100%] | inv dup(15)(q11.1) | cep subcenM |
normal, but infertile | {0} provided from Recklinghausen, Germany |
| 15- O- q11.1/ 1-165 |
male/ adult |
PBL | n.a. |
47,XY,+mar[100%] | inv dup(15)(q11.1) | cep subcenM |
normal, but infertile | {0} provided from Leipzig, Germany |
| 15- O- q11.1/ 1-166 |
male/ 43y |
PBL | n.a. |
47,XY,+mar[100%] | inv dup(15)(q11.1) | cep subcenM |
normal, but infertile | {0} provided from Spain |
| 15- O- q11.1/ 1-167 |
female/ prenatal |
AF | mat |
47,XX,+mar[100%] | inv dup(15)(q11.1) | cep subcenM |
AMA, mother normal | {0} provided from Greece |
| 15- O- q11.1/ 1-168 |
female/ 33y |
PBL | fam |
47,XX,+mar[100%] | inv dup(15)(q11.1) | cep subcenM LSP in 6q11 |
normal,
but infertile. in aCGH 1.54 Mb dup in 6q11 |
{0} provided from Ulm, Germany |
| 15- O- q11.1/ 1-169 |
male/ adult |
PBL | n.a. |
47,XY,+mar[100%] | inv dup(15)(q11.1) | cep subcenM |
normal, but infertile | {0} provided from Spain |
| 15- O- q11.1/ 1-170 |
male/ adult |
PBL sperm |
n.a. |
47,XY,+mar[6]/ 46,XY[24] in sperm only in 0.66% sSMC presence |
inv dup(15)(q11.1) | cep subcenM |
normal, but infertile | {416} |
| 15- O- q11.1/ 1-171 |
female/ 24y |
PBL | n.a. |
47,XX,+mar[100%] | inv dup(15)(q11.1) | cep subcenM |
normal, but infertile | {0} provided from Greece |
| 15- O- q11.1/ 1-172 |
male/ adult |
PBL | n.a. |
47,XY,+mar[100%] | inv dup(15)(q11.1) | cep subcenM |
normal, but infertile | {0} provided from Spain |
| 15- O- q11.1/ 1-173 |
male/ 35y |
PBL | n.a. |
47,XY,+mar[13]/ 46,XY[17] |
inv dup(15)(q11.1) | cep subcenM |
normal, but infertile | {0} provided from Spain |
| 15- O- q11.1/ 1-174 |
female/ 30y |
PBL | n.a. |
47,XX,+mar[100%] | inv dup(15)(q11.1) | cep subcenM |
normal, but infertile | {0} provided from Greece |
| 15- O- q11.1/ 2-1 |
female/ 29y
|
PBL | de novo | 48,XX,+marx2[16]/ 46,XX[4] |
inv dup(15)(q11.1) | M-FISH; cenM |
normal but own and familial tendency to abortion | {3} case 6 {4} case 6 {253} case 73 {358} case 15-63 |
| 15- O- q11.1/ 2-2 |
male/ adult |
PBL | maternal | 48,XY,+marx2[100%] | inv dup(15)(q11.1) | M-FISH; subcenM; CGH, HR-CGH; SNRPN- |
normal male with oligospermia; normal daughter with one inv dup(15)(q11.1) born | {253} case 74 {358} case 15-64 |
| 15- O- q11.1/ 2-3 |
male/ adult |
PBL | n.a. | 48,XY,+marx2[100%] | inv dup(15)(q11.1) | acrocenM; subcenM | normal male with infertility | {358} case 15-65 |
| 15- O- q11.1/ 3-1 |
male/ 50y |
PBL | n.a. | 47,XY,+mar1[37]/ 47,XY,+mar2[13] |
inv dup(15)(q11.1) min(15)(:p11.1→q11.1:) |
different FISH probes (D15Z1; SNRPN) | phenotypically normal; no clinical symptoms; SMC detected in amniocentesis of unborn child | {5}
case 1 {6} case 2 |
| 15- O- q11.1/ 4-1 |
see 14-O-q11.2/1-1 | |||||||
| 15- O- q11.1/ 5-1 |
male/ 35y |
PBL | n.a. | 47,XY,+mar[?%]/ 46,XY[?%] |
r(15) (::p1?2→q11.1::) |
cenM; subcenM | severe OAT, cytogenetics prior ICSI | {358} case 15-66 |
| 15- O- q11.1/ 5-2 |
male/ 37y |
PBL | mat | 47,XY,+mar[20]/ 46,XY[12] |
r(15) (::p1?3→q11.1::) |
cenM; subcenM | normal male; sSMC found in unborn child | {0} |
| 15- O- q11.1/ 6-1 |
male/ 38y |
PBL | n.a. | 47,XY,+mar[50%]/ 46,XY[50%] |
min(15)(:p11.1→q11.1:) | cenM; subcenM | detected due to repeated abortions in female partner | {358} case 15-67 |
| 15- O- q11.1/ 6-2 |
male/ adult |
PBL | n.a. | 47,XY,+mar[100%] | min(15)(pter or :p11.2→q11.1:) | cenM; subcenM | detected due to infertility | {358} case 15-68 |
| 15- O- q11.1/ 6-3 |
female/ prenatal |
AF | mat. and grandmat. |
47,XX,+mar[80%]/ 46,XX[20%] |
min(15)(:p11.1→q11.1:) aCGH: no imbalance detected |
acrocenM; subcenM; aCGH |
detected due to cerebellum hypoplasia; as sSMC was found in healthy mother and grandmother this was not due to sSMC | {0} provided by Dr. Miriam Guitart, Spain |
| 15- O- q11.1/ 6-4 |
male/ prenatal |
AF | de novo | 47,XY,+mar[15]/ 46,XY[5] |
min(15)(:p11.1→q11.1:) | cep 15 and other locus-specific probes; UPD test | AMA, normal child born | {352} |
| 15- O- q11.1/ 6-5 |
female/ 35y |
PBL | n.a. | 47,XX,+mar[50%]/ 46,XX[50%] |
min(15)(:p11.1→q11.1:) | cenM, subdenM |
normal but repeated abortions | {0} provided by Dr. Pruggmeyer, Wetzlar, Germany |
| 15- O- q11.1/ 7-1 |
female/ 33y |
PBL | n.a. | 47,XX,+mar[11]/ 46,XY[46] |
min(15)(:p11.1→q11.1:) | cep probes subcenM | normal female - MR unclear genesis in family | {0} provided by Dr. Barbi, Ulm, Germany |
| 15- O- q11.1/ 7-2 |
female/ adult |
PBL | n.a. | 47,XX,+mar[?%]/ 46,XY[?%] |
min(15)(pter→q11.1:) | cep probes subcenM | normal female - different physical abnormalities of unclear genesis in family | {0} provided by Dr. Čemerlić, Subotica, Serbia |
| 15- O- q11.1/ 7-3 |
female/ 29y |
PBL | n.a. | 47,XX,+mar[100%] | min(15)(pter→q11.1:) | cenM; subcenM |
normal female, infertile | {0} provided by Dr. Tittelbach, Nürnberg, Germany |
| 15- O- q11.2/ 1-1 |
female/ prenatal |
AF | de novo | 47,XX,+mar[29]/ 46,XX[4] |
inv dup(15)(q11.2) FISH-data: RP11-307C10 at 20.6MB on sSMC |
acro-cenM; subcenM |
AMA; no ultrasound abnormalities | {184} case 15-15 |
| 15- O- q11.2/ 1-2 |
female/ prenatal |
AF | de novo | 47,XX,+mar[24]/ 46,XX[18] |
inv dup(15)(q11.2) | different FISH probes (D15Z1; D15S11); UPD-test | AMA; child born without any clinical signs and normal at age of 1y | {6} case 1 |
| 15- O- q11.2/ 1-3 |
female/ adult |
PBL | n.a. | 46,XX,trob(14;21), +mar[100%] |
inv dup(15)(q11.2) | radioactive ISH with D15S9 | normal female studied due to Down syndrome of a daughter in connection with the trob(14;21) | {98} |
| 15- O- q11.2/ 1-4 |
male/ 37y |
PBL | familial | 47,XY,+mar[100%] | inv dup(15)(q11.2) | DAPI | normal but oligozoospermia | {139}
case 4 {253} case 76 {358} case 15-69 |
| 15- O- q11.2/ 1-5 |
female/ 24y |
PBL | maternal and grand paternal |
47,XX,+mar[100%] | inv dup(15)(q11.2) | DAPI | normal but repeated abortions | {139}
case 4 {253} case 77 {358} case 15-70 |
| 15- O- q11.2/ 1-6 |
male/ prenatal |
AF, PBL (EKF- cellbank) |
maternal | 47,XY,+mar[?%]/ 46,XY[?%] |
inv dup(15)(q11.2) FISH-data: RP11-307C10 at 20.6MB on sSMC |
cep probes; subcenM | normal child and 40 years old mother; sSMC detected due to amniocentesis in connection with AMA | {0} |
| 15- O- q11.2/ 1-7 |
male/ 41y |
PBL | n.a. | 47,XY,+mar[11]/ 46,XY[39] |
inv dup(15)(q11.2) FISH-data: RP11-307C10 at 20.6MB on sSMC |
acrocenM; subcenM | normal male - repeated child death of newborn children in family | {0} provided from Cottbus, Germany |
| 15- O- q11.2/ 1-8 |
male/ 39y |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15)(q11.2) FISH-data: RP11-307C10 at 20.6MB on sSMC |
acrocenM; subcenM | normal male - repeated abortions in partner | {358} case 15-71 |
| 15- O- q11.2/ 1-9 |
female/ prenatal |
AF | n.a. | 47,XX,+mar[58]/ 46,XX[2] |
inv dup(15)(q11.2) FISH-data: RP11-307C10 at 20.6MB on sSMC |
acrocenM; subcenM; UPD-test | normal at birth and 4 months after birth | {298} case 5 |
| 15- O- q11.2/ 1-10 |
male/ 30y |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15)(q11.2) FISH-data: RP11-307C10 at 20.6MB on sSMC |
acrocenM; subcenM | normal male, OAT syndrome | {358} case 15-72 |
| 15- O- q11.2/ 1-11 |
male/ prenatal |
AF | paternal | 47,XY,+mar[100%] | inv dup(15)(q11.2) | MLPA | father normal male | {300} case 16 |
| 15- O- q11.2/ 1-12 |
male/ prenatal |
AF | maternal | 47,XY,+mar[100%] | inv dup(15)(q11.2) | MLPA | mother normal female | {300} case 17 |
| 15- O- q11.2/ 1-13 |
male/ 43y |
PBL (EKF- cellbank) |
n.a. | 47,XY,+mar[100%] | inv dup(15)(q11.2) FISH-data: RP11-307C10 at 20.6MB on sSMC; RP11-131I21 at 22.73Mb not on sSMC |
acrocenM; subcenM | normal male, fertility problems, cryptozoospermia | {358} case 15-73 |
| 15- O- q11.2/ 1-14 |
n.a./ postnatal |
PBL | maternal | 47,+mar[100%] | inv dup(15)(q11.2) in aCGH no euchromatin deteceted |
cep, subcenM | mother normal female | {0} provided by Dr. Almeida, Montevideo, Uruguay |
|
***
15-O- q11.2/ 1-15 |
male/ 39 and 47 y |
PBL/ sperm | parental | 47,XY+mar[100%] in sperm sSMC in 30 or 37% present |
inv dup(15)(q11.2) aCGH: pter to 21.18 MB (hg18 recalculated) |
cep, FISH, aCGH | normal males, brothers, one of them infertile | {310}
patients 1 and 2 {358} case 15-74 |
| 15- O- q11.2/ 1-16 |
male/ prenatal |
AF | mat | 47,XY,+mar[100%] | inv dup(15)(q11.2) ~2.0 MB in q euchromatin |
pericentric BAC-probe set | normal fetus and mother | {336} case 12 and 13 |
| 15- O- q11.2/ 1-17 |
male/ postnatal |
PBL | n.a. | 47,XY,+mar[50%]/ 46,XY[50%] |
inv dup(15)(q11.2) | acrocenM; subcenM | normal child; sSMC decteted by chance | {0} provided by Dr. Ma, Canada |
| 15- O- q11.2/ 1-18 |
female/ 26y |
PBL | n.a. | 47,XX,+mar[35%]/ 46,XX[65%] |
inv dup(15)(q11.2) | acrocenM; subcenM | normal female sSMC detceted in unborn child with 48,XX,+21,+mar | {0} provided by Dr. Dufke, Tübingen |
| 15- O- q11.2/ 1-19 |
female/ 39y |
PBL (EKF- cellbank) |
n.a. | 47,XX,+mar[50%]/ 46,XX[50%] |
inv dup(15)(q11.2) | cep; subcenM |
normal but infertile | {0} provided by Dr. Monlakos, Athens, Greece |
| 15- O- q11.2/ 1-20 |
male/ 37y |
PBL | n.a. | 47,XY,+mar[9]/ 46,XY[12] |
inv dup(15)(q11.2) | cep; subcenM |
normal but infertile | {0} provided by Dr.Senger, Regensburg, Germany |
| 15- O- q11.2/ 1-21 |
female/ 42y |
PBL | n.a. | 47,XX,+mar[100%] | inv dup(15)(q11.2) | acrocenM; subcenM |
normal but infertile | {0} provided from Hildesheim |
| 15- O- q11.2/ 1-22 |
male/ adult |
PBL | n.a. | 47,XY,+mar[20%]/ 46,XY[80%] |
inv dup(15)(q11.2) | acrocenM; subcenM |
normal but infertile | {395} case P2 |
| 15- O- q11.2/ 1-23 |
male/ 30y |
PBL (EKF- cellbank) |
n.a. | 47,XY,+mar[100%] | inv dup(15)(q11.2) | acrocenM; subcenM |
normal but infertile | {0} provided by Reprogenet, Spain |
| 15- O- q11.2/ 1-24 |
female/ 28y |
PBL | n.a. | 47,XX,+mar[100%] | inv dup(15)(q11.2) | ceps, subcenM |
normal but infertile | {0} provided from Nuremberg, Germany |
| 15- O- q11.2/ 1-25 |
female/ prenatal |
AF | de novo | 47,XX,+mar[100%] | inv dup(15)(q11.2) array (hg19) - break: 23300172 |
aCGH | pregnancy ongoing | {396} case 5 |
| 15- O- q11.2/ 1-26 |
female/ prenatal |
AF |
de novo | 47,XX,+mar[100%] | inv dup(15)(q11.2) array (hg19) - break: 23625785 |
aCGH | pregnancy ongoing | {396} case 6 |
| 15- O- q11.2/ 1-27 |
male/ 31y |
PBL |
n.a. | 47,XY,+mar[100%] | inv dup(15)(q11.2) NGS - break: 23520000 |
NGS | infertile, asthenospermia | {398} case W03987 |
| 15- O- q11.2/ 1-28 |
male/ 11y |
PBL |
n.a. |
47,XY,+mar[75%]/ 46,XY[25%] |
inv dup(15)(q11.2) | cep,
subcenM |
normal; tested due to anxious mother | {0} provided from Greece |
| 15- O- q11.2/ 1-29 |
male/ 39y |
PBL |
n.a. |
47,XY,+mar[100%] | inv dup(15)(q11.2) ish (midi54+,D15Z4+,RP11-307C10-, UBE3A-,D15Z4+,midi54+) |
cep,
subcenM, BACs |
normal; infertile | {0} provided from Spain |
| 15- O- q11.2/ 1-30 |
female/ 42y |
PBL |
n.a. |
47,XX,+mar[47]/ 46,XX[3] |
inv dup(15)(q11.2) ish (midi54+,D15Z4+,RP11-307C10-, UBE3A-,D15Z4+,midi54+) |
cep,
subcenM, BACs |
normal; infertile | {0} provided from Spain |
| 15- O- q11.2/ 1-31 |
male/ 33y |
PBL |
n.a. |
47,XY,+mar[100%] | inv dup(15)(q11.2) ish (midi54+,D15Z4+,RP11-307C10-, UBE3A-,D15Z4+,midi54+) |
cep,
subcenM, BACs |
normal; infertile | {0} provided from Köln, Germany |
| 15- O- q11.2/ 1-32 |
female/ 30y |
PBL | n.a. | 47,XX,+mar[100%] | inv dup(15)(q11.2) FISH-data: RP11-307C10 at 20.6MB on sSMC |
ceps; subcenM | normal female - infertile | {0} provided from Köln, Germany |
| 15- O- q11.2/ 1-33 |
male/ adult |
PBL | n.a. | 47,XY,+mar[100%] |
inv dup(15)(q11.2) FISH-data: RP11-307C10 at 20.6MB on sSMC |
ceps; subcenM | normal male - infertile | {0} provided from Spain |
|
***
15-O- q11.2/ 2-1 |
male/ prenatal |
AF | de novo | 47,XY,+mar[32]/ 46,XY[3] |
min(15) (:p13→q11.2:) 18.26-21.05 MB (in array also positive due to crosshybridization: chr. 9: 44.90-69.22) |
midi aCGH |
AMA; child born without any clinical signs; routine lookups U1 to U3 were o.k. | {0} {184} case 15-17 |
|
***
15-O- q11.2/ 2-2 |
male/ adult |
PBL | n.a. | 47,XY+mar[100%] | min or mar(15) (pter→q11.2:) 22.81-23.29 MB |
aCGH | normal male with oligospermia prior to ICSI | {358} case 15-75 |
| 15- O- q11.2/ 2-3 |
female/ prenatal |
AF | paternal | 47,XX,+mar[100%] | min(15)(:p13→q1?1.2:)* .ish D15Z1+, wcp15+ | different FISH probes (D15Z1; wcp15) | AMA; child born without any clinical signs and normal at age of 2.5y ; father normal | {7} case 1 |
| 15- 15- O- q11.2/ 2-4 |
male/ 35y |
PBL | n.a. | 47,XY,+mar[133]/ 46,XY[3] |
min(15) (:p13→q11.2:) |
cep15; wcp15; D15S11; PML | normal male; analysis due to 4 previous miscarriages of his wife; mar present in only ~6% of sperms | {42} {253} case 79 {358} case 15-76 |
| 15- O- q11.2/ 2-5 |
male/ prenatal |
AF | n.a. | 47,XY,+mar[100%] | min(15) (pter→q11.2:) |
cep; subcenM | normal child born at term, normal at 3 months | {0} provided by Dr. O. Miljanovic, Montenegro |
|
***
15-O- q11.2/ 2-6 |
female/ 50y |
PBL | n.a. | 47,XX,+mar[74%]/ 46,XX[26%] |
min(15) (:p11.1→q11.2:) aCGH - BP in 24,540479 Mb (hg19) |
aCGH | normal but infertile |
{0} provided by Dr.
Weber, Berlin |
| 15- O- q11.2/ 3-1 |
female/ prenatal |
AF | maternal | 48,XX,+marx2 | inv dup(15)(q11.2) | different FISH probes (cep 15; wcp 15; SNRPN) | Amniocentesis due to abnormal MSAFP levels; no ultrasound abnormalities | {14} case 1 |
| 15- O- q11.2/ 3-2 |
male/ 36y |
PBL | n.a. | 48,XX,+marx2 | inv dup(15)(q11.2) | n.a. | normal male studied due to 5y of infertility - oligoasthenospermia | {56} {253} case 78 {358} case 15-77 |
| 15- O- q11.2/ 3-3 |
female/ 24y |
PBL | n.a. | 48,XX,+mar,+mar[2]/ 47,XX,+mar[19]/ 46,XX[53] |
inv dup(15)(q11.2) | cenM, subcenM | normal female studied due to
infertility |
{358} case 15-78 |
| 15- O- q11.2/ 3-4 |
male/ adult |
PBL | maternal (1 mar only) |
48,XX,+mar,+mar[100%] | inv dup(15)(q11.2) | cep15, D15S11 |
normal male studied due to fetus
with 1 sSMC |
{401} |
| 15- O- q11.2/ 3-5 |
male/ adult |
PBL | n.a. |
48,XX,+2mar[3]/ 47,XX,+mar[45]/ 46,XX[52] |
inv dup(15)(q11.2) brakpoint in q (hg19): 24.314675 Mb |
aCGH; SNRPN |
normal male |
{413} |
| 15- O- q11.2/ 4-1 |
male/ 47y |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15)(pter→q11.2: :q11.1→pter) + NOR 5x at one p-arm FISH-data: RP11-307C10 at 20.6MB on sSMC |
cenM, subcenM, SNRPN- | normal male; studied due to suspicion of neoplasia; autoimmunothrombopenia; no further information available | {0} provided by Dr. Schlegelberger, Hannover, Germany) and Dr. Brinkmann, Latzen, Germany |
| 15- O- q11.2/ 5-1 |
see 15-Uc-16(9) | |||||||
| 15- O- q11.2/ 6-1 |
female/ adult |
PBL | n.a. | 47,XX,+mar[100%] | r(15) (::p1?2→q11.2::) FISH-data: RP11-307C10 at 20.6MB on sSMC in aCGH no euchromatin deteceted |
cenM, subcenM aCGH |
normal female; fertility problems | {358} case 15-79 |
| 15- O- q11.2/ 6-2 |
male/ prenatal |
AF | de novo | 47,XY,+mar[27]/ 46,XY[25] |
r(15)(::p11.2→q11.2: :q11.2→p11.2::) |
cenM, subcenM; UPD test | normal child born | {0} provided by Drs. Wagner/Stibbe, Hannover, Germany |
| 15- O- q11.2/ 7-1 |
female/ 20y |
PBL | n.a. | 47,XX,+mar[100%] | r(15) (::p11.1→q11.2::) FISH-data: RP11-307C10 at 20.6MB on sSMC in aCGH no euchromatin deteceted |
cenM, subcenM aCGH |
normal female; sSMC detected already prenatally | {0} provided by Dr. Achemann, Switzerland |
| 15- O- q11.2/ 8-1 |
see 15-Ud-1 | |||||||
| 15- O- q11.2 ~12/ 1-1 |
male/ 32y |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15)(q11.2~q12) | acro-cenM subcenM |
primary sterility in the patient; normal | {184}
case 15-18 {253} case 80 {358} case 15-80 |
| 15- O- q11.2~12/ 1-2 |
female/ 39y |
PBL (EKF- cellbank) |
n.a. | 47,XX,+mar[87%]/ 46,XX[13%] |
inv dup(15)(q11.2~q12) | centromeric
probes subcenM |
normal female, mar detected in unborn child; in child no ultrasound abnormalities and no UPD 15 (in unborn child): D15S822; D15S165; D15S659*, D15S818, D15S655*, D15S816. Normal child born. | {216} case 8 |
| 15- O- q11.2~12/ 1-3 |
male/ 24y |
PBL (EKF- cellbank) |
n.a. | 47,XY,+mar[?100%] | inv dup(15)(q11.2~q12) | acrocenM subcenM |
normal male, repeated abortions in female partner | {253} case 81 {358} case 15-81 |
| 15- O- q11.2~12/ 1-4 |
female/ prenatal |
AF | de novo | 47,XX,+mar[100%] | inv dup(15)(q11.2~q12) FISH-data: RP11-307C10 at 20.6MB on sSMC |
cenM subcenM; SNRPN; UPD-test |
AMA, normal child born - no follow-up data available | {0} provided by Dr. Kistner, Schwerin, Germany |
| 15- O- q11.2~12/ 1-5 |
male/ prenatal |
AF | n.a. | 47,XY,+mar[?%] | inv dup(15)(q11.2~q12) FISH-data: RP11-307C10 at 20.6MB on sSMC |
cenM subcenM; SNRPN; UPD-test |
mother was anxious; thus cytogenetics was done and sSMC detected; normal child born, normal at 11 months | {298} case 3 |
| 15- O- q11.2~12/ 1-6 |
male/ 42y |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15)(q11.2~q12) FISH-data: RP11-307C10 at 20.6MB on sSMC |
ceps, subcenM; SNRPN |
normal, infertile |
{0} provided from Greece |
| 15- O- q12/ 1-1 |
male/ adult |
PBL | n.a. | 47,XY,+mar[100%]/ | inv dup(15)(q12) FISH-data: RP11-307C10 at 20.6MB on sSMC |
cenM, subcenM, SNRPN | normal male, infertile and early abortion in previous partnership | {0} provided by Dr. Dana Kantarská, Slovakia |
| 15- O- q12/ 1-2 |
female/ 37y |
PBL | n.a. | 47,XX,+mar[100%]/ | inv dup(15)(q12) FISH-data: RP11-307C10 at 20.6MB on sSMC |
cenM, subcenM, SNRPN | normal female, infertile | {358} case 15-82 |
| 15- O- q12/ 1-3 |
male/ prenatal |
AF | de novo | 47,XY,+mar[100%] | inv dup(15)(q12) FISH-data: RP11-307C10 at 20.6MB on sSMC |
acrocenM, subcenM, SNRPN | AMA, normal child born | {0} provided by Dr. Achermann, Switzerland |
| 15- O- q12/ 1-4 |
female/ prenatal |
AF | pat | 47,XX,+mar[100%] | inv dup(15)(q12) | cep 15 | AMA, father normal |
{364} |
| 15- O- q12/ 2-1 |
female/ adult |
PBL | n.a. | 47,XX,+mar[?%]/ 46,XX[?%] |
min(15)(pter→q12:) (with 1 UBE3A) |
acro-cenM, subcenM; UBE3A | normal female, detected in unborn child | {0} provided by Dr. Ana Barreta, Portugal |
| 15- O- q13/ 1-1 |
female/ adult |
PBL | n.a. | 47,XX,+mar[18]/ 46,XX[14] |
inv dup(15)(q13) FISH-data: SNRPN at 22.8MB on sSMC |
cep probes, SNRPN | normal female; son with same sSMC but in 100% of blood cells abnormal | {230; 330; 384} |
| 15- O- q13/ 1-2 |
male/ 12y |
AF/ PBL |
de novo | AF1: 47,XY,+mar[3]/ 46,XY[10] AF2: sSMC in 1/16 cells; PBL: at birth in 13/50 cells; PBL: at 2y in 23/50 cells; PBL: at 4y in 18/50 cells |
inv dup(15)(q13) FISH-data: SNRPN at 22.8MB on sSMC sSMC derived from maternal chromosome 15 |
cep probes, GABRB3 | normal male - last studied at 12 y | {238; 330; 384} |
| 15- O- q13/ 2-1 |
female/ 42y |
PBL | n.a. | 47,XX,+mar1[55]/ 47,XX+mar2[26]/ 46,XX[19] |
mar1: inv dup(15)(:p11.1→q12~13::q12~13→p11.1:); mar2:
min(15)(:p11.1→q11.2:)[~30%]/ r(15)(::p11.1→q11.2::)[~40%]/r(15)(::p11.1→q12::)[~20%] FISH-data: SNRPN at 22.8MB on sSMC |
cenM, subcenM, SNRPN | infertility , otherwise normal woman | {330;
384} {358} case 15-83 |
| 15- O- q13/ 3-1 |
female/ prenatal |
AF/ PBL/ fibroblasts | de novo | AF: 47,XX,+mar[3]/ 46,XX[52] mar in PBL: 45% fresh blood smear: 15% fibros: 25% bucchal smear: 8% |
inv dup(15)(pter→q13::q12→pter) array-data: SNRPN at 22.8MB on sSMC twice; until GABRB3 all present twice; 3 MB adjacent until BAC RP11-37J13 (29.5MB) present once on sSMC sSMC derived from paternal chromosome 15 | aCGH SNRPN; BAC-probes | normal female at 2 years; initially amniocentesis due to enhanced nuchal translucency | {278; 330; 384} |
| 15- O- q13.1/ 1-1 |
female/ prenatal |
AF, PBL (EKF- cellbank) |
maternal - mar in 10% of peripheral blood | 47,XX,+mar[37]/ 46,XX[10] |
r(15) (::p11.2→q13.1::) FISH-data: SNRPN at 22.8MB on sSMC |
cenM, subcenM, SNRPN | AMA -sonography normal, normal child born | {330; 384} |
| 15- O- q13.1/ 2-1 |
female/ postnatal |
PBL | n.a. | ?mos 47,XX,+mar/ 46,XX |
inv dup(15)(q13.1) aCGH (hg19): 28.53 Mb! |
cep probes aCGH |
normal woman; female daughter 32m with same sSMC in 100% of cells and DD | {369}
case 5 {384} |
| case
no. |
gender/ age at diagnosis |
studied material |
de
novo/ Inherited |
GTG-banding and final FISH result | test methods |
clinical
symptoms |
Reference |
| 15-O IMB- q13/ 1-1 to 1-22 |
female and
male/ adult |
PBL | n.a. | 46,dup(15)(q11q13) | locus specific probes | normal adult - transmitting duplication (in pats including PWSCR) to in parts affected children | {248} |
| 15-O- IMB- q13/ 1-1 to 1-3 |
female and
male/ adult |
PBL | n.a. | 46,dup(15)(q11q12) | none | normal individuals | {249} see also {250-252} |
| 15-O- IMB- q13/ 1-4 to 1-10 |
female and
male/ adult |
PBL | n.a. | 46,dup(15)(q11q13) | locus specific probes | normal adult - transmitting duplication | {296} |
| 15-O- IMB- q13/ 1-11 |
female/ prenatal |
AF | mat | 46,XX,dup(15)(q11q13)mat arr[GRCh37] 15q11.2q13.1 (23,894,550_28,107,154)x3 |
aCGH | normal adult - transmitting duplication to normal child in sonography | {418} |
|
case
no. |
gender/ age at diagnosis |
studied material |
de
novo/ inherited |
GTG-banding
result grade of mosaicism |
final
result of the sSMC |
test methods |
clinical
symptoms |
Reference |
| 15- CO- 1 |
see 15-Uc-1 | |||||||
| 15- CO- 2 |
male/ 33y |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15)(q11.2~q13) | SKY, cep15; PML, SNRPN | normal male but infertility with unilateral cryptorchidism, which was surgically repaired in childhood; a sperm analysis revealed oligospermia | {186} {253} case 82 {358} case 15-84 |
| 15- CO- 3 |
n.a./ prenatal |
AF | maternal | 47,+mar[53]/ 46[21] |
r(15) | centromeric probes, wcp15 | AMA; mother normal, child normal at 3y | {199} case 13 |
| 15- CO- 4 |
male/ prenatal |
AF | paternal | 47,XY,+mar[100%] | inv dup(15) | centromeric probes | AMA; father normal, child normal at 5y | {12} case 1; {15} case 26 |
| 15- CO- 5 |
male/ prenatal |
AF | paternal | 47,XY,+mar[100%] | inv dup(15) | centromeric probes | familial sSMC, child normal at 5y | {12} case 2; {15} case 31 |
| 15- CO- 6 |
female/ prenatal |
AF | maternal | 47,XX,+mar[?%]/ 46,XX[?%] |
inv dup(15) | centromeric probes | Abnormal CVS, child normal at 2y | {12} case 3; {15} case 24 |
| 15- CO- 7 |
female/ prenatal |
AF | paternal | 47,XX,+mar[100%] | inv dup(15) | centromeric probes | AMA; father normal, child normal at 3m | {12} case 5 |
| 15- CO- 8 |
male/ prenatal |
AF | paternal | 47,XY,+mar[100%] | inv dup(15) | centromeric probes | Amniocentesis due to anxiety; father normal, hydrocele testis, otherwise child normal at birth | {12} case 6; {15} case 27 |
| 15- CO- 9 |
male/ prenatal |
AF | maternal | 47,XY,+mar[100%] | inv dup(15) | centromeric probes | familial sSMC, child normal at 4-5y | {12} case 9; {15} case 28 |
| 15- CO- 10 |
female/ ?adult |
skin fibroblasts | paternal | 47,XX,+mar[100%] | inv dup(15) | centromeric probes | normal male and daughter | {16} cases 1 |
| 15- CO- 11 |
female/ prenatal |
AF | maternal | 47,XX,+mar[100%] | inv dup(15) | centromeric probes | normal female and daughter; studied due to a Down syndrome in prev. pregnancy | {21} cases 3 |
| 15- CO- 12 |
male/ prenatal |
AF | maternal | 47,XY,+mar[100%] | min(15)* | centromeric probes | normal at birth | {25} cases 9 |
| 15- CO- 13 |
male/ prenatal |
AF | paternal | 47,XY,+mar[100%] | inv dup(15) | centromeric probes | normal at birth | {25} cases 10 |
| 15- CO- 14 |
female/ prenatal |
AF | paternal | 47,XX,+mar[100%] | inv dup(15) | centromeric probes | normal at birth | {26} cases 7 |
| 15- CO- 15 |
female/ prenatal |
AF | de novo | 47,XX,+mar[100%] | inv dup(15) | centromeric probes | normal at birth | {26} cases 9 |
| 15- CO- 16 |
male/ prenatal |
AF | de novo | 47,XY,+mar[100%] | inv dup(15) | centromeric probes | AMA; normal at 3m | {32; 33; 34} case 2 |
| 15- CO- 17 |
female/ prenatal |
AF | maternal | 47,XX,+mar[100%] | inv dup(15) | centromeric probes | AMA; normal at birth | {32; 33; 34} case 3 |
| 15- CO- 18 |
female/ prenatal |
AF | maternal | 47,XX,+mar[100%] | inv dup(15) | centromeric probes | AMA and spontaneous abortions; normal at birth | {32; 33; 34} case 4 |
| 15- CO- 19 |
male/ prenatal |
AF | maternal | 47,XY,+mar[100%] | inv dup(15) | centromeric probes | AMA and spontaneous abortions; normal at birth | {32; 33; 34} case 5; {71} case 16 |
| 15- CO- 20 |
female/ prenatal |
AF | de novo | 47,XX,+mar[9]/ 46,XX[6] |
inv dup(15) | centromeric probes | AMA and spontaneous abortions; normal at birth | {32; 33; 34} case 7 |
| 15- CO- 21 |
female/ prenatal |
AF | maternal 15% of cells with sSMC |
47,XX,+mar[65%]/ 46,XX[35%] |
mar(15) | centromeric probes | mother normal. child normal at 3y | {15} case 24 |
| 15- CO- 22 |
male/ prenatal |
AF/ chord blood | de novo | 47,XY,+mar[10%]/ 46,XY[90%] in chord blood in 3% |
mar(15) | centromeric probes | normal at birth | {15} case 25 |
| 15- CO- 23 |
female/ prenatal |
AF | paternal | 47,XX,+mar[100%] | inv dup(15) | centromeric probes | normal | {40} cases 9 {51} cases JC9 |
| 15- CO- 24 |
male/ 34y |
PBL | n.a. | 47,XY,+mar[100%] | min(15) | centromeric probes | normal; repeated abortions in partnership | {40} cases 13 {253} case 83 {358} case 15-85 |
| 15- CO- 25 |
male/ prenatal |
AF | n.a. | 47,XY,+mar[60%]/ 46,XY[10%] |
min(15) | centromeric probes | AMA, normal at 6m | {40} cases 16 |
| 15- CO- 26 |
female/ adult |
PBL | paternal | 48,XX,+marx2[22%]/ 47,XX,+mar[61%]/ 46,XX[17%] |
inv dup(15) | centromeric probes | normal female |
{51} cases DL 1 |
| 15- CO- 27 to 29 |
male/ adult |
PBL | paternal | 47,XY,+mar[100%] | inv dup(15) | centromeric probes | normal males | {51} cases DL 2-3, 6 |
15- CO- 30 |
female/ adult |
PBL | maternal | 47,XX,+mar[100%] | inv dup(15) | centromeric probes | normal mother; child with slight MR | {51} cases DL 5 |
| 15- CO- 31 to 32 |
male/ prenatal |
AF | de novo | 47,XY,+mar[100%] | inv dup(15) | centromeric probes | normal male | {51} cases DL 4, 7; DL4 = case in {52} |
| 15- CO- 33 |
male/ prenatal |
AF | paternal | 47,XY,+mar[100%] | inv dup(15) | centromeric probes | father, normal male; TOP | {65} case 1 |
| 15- CO- 34 to 36 |
2x male/
1x female/ prenatal or adult |
AF/ PBL | n.a. | 47,+mar[100%] | inv dup(15) | centromeric probes | normal males or females | {71} cases 4/10/20 case 4 used as case 2 in {101} |
| 15- CO- 37 |
n.a./ adult |
PBL | maternal | 47,+mar[?%]/ 46[?%] |
min(15) | centromeric probes | normal males or females | {93} |
| 15- CO- 38 |
n.a./ n.a. |
PBL | n.a. | 47,+mar[?%]/ 46[?%] |
min(15) | centromeric probes | normal | {96} |
| 15- CO- 39 |
female/ prenatal |
AF | paternal, grand paternal | 47,XX,+mar[100%] | inv dup(15) | centromeric probes | AMA; all members of family normal ; Question of associated malignancy | {100} |
| 15- CO- 40 to 41 |
female and
male/ adult |
PBL | de novo | 47,+mar[100%] | inv dup(15) | centromeric probes | Population and family survey | {105} cases 1, 5 |
| 15- CO- 42 |
female/ prenatal |
AF | maternal | 47,XX,+mar[100%] | inv dup(15) | centromeric probes | normal | {105} case 2 |
| 15- CO- 43 |
male/ prenatal |
AF | maternal | 47,XY,+mar[100%] | inv dup(15) | centromeric probes | normal | {105} case 4 |
| 15- CO- 44 |
n.a./ n.a. |
n.a. | n.a. | 47,+mar[100%] | mar(15) | PRINS | normal | {108} case 3 |
| 15- CO- 45 to 46 |
female
(1x) and male (1x)/ prenatal |
AF | familial | 47,+mar[100%] | inv dup(15)(?q12)* | centromeric probes, wcp 15 | normal at birth and /or normal parents | {133} 2 cases {134} 2 cases {323} cases 1,2 |
| 15- CO- 47 |
male/ postnatal |
PBL | n.a. | 47,XY,+mar[?100%] | mar(15) | n.a. | infertility | {217} cases 1 {253} case 84 {358} case 15-86 |
| 15- CO- 48 |
n.a./ prenatal |
AF | de novo | 47,+mar[100%] | inv dup(15) | DAPI-stain | normal at birth and at 1 y | {136} case 2 |
| 15- CO- 49 |
male/ adult |
PBL | n.a. | 47,XY,+mar[100%] | min(15) | cep probes | normal father of reported patient in {138} | {138} |
| 15- CO- 50 |
n.a./ n.a. |
n.a. | n.a. | 47,+mar[100%] | inv dup(15) | cep probes | normal | {157} |
| 15- CO- 51 |
female/ n.a. |
n.a. | paternal | 47,XX,+mar[45%]/ 46,XX[55%] |
mar(15) | wcp probes | normal | {209} case 1 |
| 15- CO- 52 |
female/ n.a. |
n.a. | maternal | 47,XX,+mar[100%] | mar(15) | wcp probes | normal | {209} case 16 |
| 15- CO- 53 |
male/ prenatal |
AF | de novo | 47,XY,+mar[100%] | mar(15) | wcp probes; UPD-test | AMA; normal | {210} case 6 |
| 15- CO- 54 |
female/ prenatal |
AF | de novo | 47,XX,+mar[10]/ 46,XX[6] |
mar(15) | wcp probes; UPD-test | AMA; normal at 2m | {210} case 8 |
| 15- CO- 55 to 56 |
female/ prenatal |
AF | de novo | 47,XX,+mar[100%] | mar(15) | wcp probes; UPD-test | AMA; normal at birth | {210} cases 10, 16 |
| 15- CO- 57 to 58 |
male/ prenatal |
AF | 2x maternal | 47,XY,+mar[100%] |
mar(15) | wcp probes; UPD-test | AMA, normal at birth or 18m | {210} cases 21, 22 |
| 15- CO- 59 to 60 |
male/ prenatal |
AF | 2x paternal | 47,XY,+mar[100%] | mar(15) | wcp probes; UPD-test | AMA; normal at birth |
{210} cases 23, 24 |
| 15- CO- 61 to 62 |
male/ prenatal |
AF | 2x maternal |
47,XY,+mar[100%] | mar(15) | wcp probes; UPD-test (in 1 case) | AMA, normal; no info on children available | {210} cases 19, 20 |
| 15- CO- 63 |
female/ prenatal |
AF | paternal | 47,XX,+mar[100%] | mar(15) | wcp probes; UPD-test | AMA; father normal; no info on child available | {210} case 27 |
| 15- CO- 64 |
male/ postnatal |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15) | cep 15 | primary infertility with oligoasthenozoospermia | {211}
case 9 {253} case 85 {358} case 15-87 |
| 15- CO- 65 to 66 |
female/ prenatal |
AF | 2x paternal | 47,XX,+mar[100%] | mar(15) | wcp probes; UPD-test | AMA; normal at birth or 15m | {210} cases 25, 26 |
| 15- CO- 67 |
male/ postnatal |
PBL sperm |
n.a. | 47,XY,+mar[100%] | inv dup(15) in sperm: 97/713 (14%) with 2 or more signals |
cep 15 | Oligozoospermia | {222}
case 1 {253} case 86 {358} case 15-88 |
| 15- CO- 68 |
male/ postnatal |
PBL sperm |
n.a. | 47,XY,+mar[100%] | inv dup(15) in sperm: 251/2076 (12%) with 2 or more signals |
cep 15 | sterility | {222}
case 2 {253} case 87 {358} case 15-89 |
| 15- CO- 69 |
male/ postnatal |
PBL |
n.a. | 47,XY,+mar[100%] | inv dup(15) in interphase in blood: 70% of 1056 cells with 3 or more signals |
cep 15 | severe OAT | {222}
case 3 {253} case 88 {358} case 15-90 |
| 15- CO- 70 |
male/ postnatal |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15) in interphase in blood: 48% of 100 cells with 3 or more signals |
cep 15 | severe OAT | {222}
case 4 {253} case 89 {358} case 15-91 |
| 15- CO- 71 |
male/ postnatal |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15) in interphase in blood: 73% of 104 cells with 3 or more signals |
cep 15 | cryptozoospermia | {222}
case 5 {253} case 90 {358} case 15-92 |
| 15- CO- 72 |
male/ postnatal |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15) in interphase in blood: 76% of 119 cells with 3 or more signals |
cep 15 | implantation failure | {222}
case 6 {253} case 91 {358} case 15-93 |
| 15- CO- 73 |
male/ postnatal |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15) | cep 15 | sperm donor | {222}
case 7 {253} case 92 |
| 15- CO- 74 |
male/ postnatal |
PBL | n.a. | 47,XY,+mar[100%] | mar(15) | cep 15; SNRPN- | severe OAT | {254}
case 13 {358} case 15-94 |
| 15- CO- 75 to 78 |
4x female/ 2x prenatal 2x postnatal |
AF / PBL | n.a. | 47,XX,+mar[100%] or mos | inv dup(15) 1x inv dup(15)/r(15) |
n.a. | no clinical signs | {256} cases 11, 12, 20, 22 |
| 15- CO- 79 |
female/ prenatal |
AF | de novo | 47,XX,+mar[100%] | inv dup(15)(q1?) | cep probes, SNRPN; UPD-test | normal female born | {263} |
| 15- CO- 80 |
n.a./ prenatal |
AF | de novo | 47,+mar[38%]/ 46[62%] |
r(15) | wcp15; cep15; UPD-test | AMA. normal child born | {270} case 10 |
| 15- CO- 81 |
n.a./ prenatal |
AF | paternal | 47,+mar[100%] | inv dup(15) | wcp15; cep15; UPD-test | Abnormal triple test, normal child born | {270} case 2 |
| 15- CO- 82 |
male/ prenatal |
AF | de novo | 47,XY,+mar[?%/ 46,XY[?%] | inv dup(15) | cep15 |
parents anxiety, normal at 17y | {272} case 1 |
| 15- CO- 83 |
n.a./ postnatal |
PBL | maternal | 47,+mar[?%] | inv dup(15) | aCGH | n.a. | {280} 1 case |
| 15- CO- 84 to 86 |
n.a./ prenatal |
AF | maternal | 47,+mar[?100%] | inv dup(15) | n.a. | mothers normal, children normal in sonography | {281} 3 cases |
| 15- CO- 87 to 91 |
n.a./ prenatal |
AF | de novo | 47,+mar[?100%] | inv dup(15) (no euchromatin) |
n.a. | normal sonography | {281} 5 cases |
| 15- CO- 92 |
male/ 41y |
PBL | n.a. | 47,XY+mar[?100%] | inv dup(15) | n.a. | normal male, infertility |
{303}
case 2 {358} case 15-95 |
| 15- CO- 93 |
male/ prenatal |
AF | paternal | 47,XY,+mar[8]/ 46,XY[2] |
mar(15) | SKY | AMA; father normal; no info on child available | {311} case F058133 |
| 15- CO- 94 |
male/ 25y |
PBL | n.a. | 47,XY,+mar[?100%] | mar(15) | SKY | infertility | {311}
case F077829 {358} case 15-96 |
| 15- CO- 95 |
male/ postnatal |
PBL | n.a. | 47,XY,+mar[?100%] | mar(15) | n.a. | infertility | {325} {358} case 15-97 |
| 15- CO- 96 |
male/ prenatal |
AF | n.a. | 47,XY,+mar[100%] | mar(15) aCGH: 19,11- 20,64 Mb |
aCGH | AMA, normal child born | {329} case 30 |
| 15- CO- 97 |
male/ 35y |
PBL | n.a. | 47,XY,+mar[100%] | inv dup(15) | SKY | infertile | {362} |
| 15- CO- 98 |
female/ adult |
PBL | n.a. | 47,XY,+mar[17]/ 46,XX[83] |
inv dup(15) | n.a. | child with abnormal
phenotype |
{382}
case 10 |
| 15- CO- 99 |
female/ adult |
PBL | n.a. | 47,XX,+mar[?100%] |
inv dup(15) break in 22,698,581 |
aCGH | child with abnormal
phenotype; mother normal |
{400}
case P5 and P6 |
| 15- CO- 100 to 102 |
n.a./ adult or prenatal |
PBL or AF |
n.a. | 47,XN,+mar[?] |
mar(15) | aCGH | n.a. |
{400}
cases P3, P4, P7 |