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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 |
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