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- Aneusomy
GONOSOMAL -
| case no. new |
case no. old |
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 |
| +0Xf- 09- 1 |
09- W- iso/ 2-3 |
female/ adult |
PBL | n.a. | 48,XXX,+mar[6]/ 47,XXX[6]/ 47,XX,+mar[1]/ 46,XX[2] |
i(9)(p10) | cep 9; subtel9p | normal female, studied due problems to conceive | {4} case 2, {2} |
| +0Xf- 09- 2 |
09- U- 16 |
female/ 10y |
PBL | de novo | 48,XXX,+mar[6]/ 47,XXX[3] |
min(9)(:p11→q11~12:) | cenM; subcenM |
abnormal phenotype - not specified | {9} case 2 |
| +0Xf- 12- 1 |
12- U- 11 |
female/ 2y |
PBL | n.a. | 48,XXX,+mar[6]/ 46,XX[35] |
min(12)(:p11.12→q11:) | midi; subcenM | behavior problems and learning difficulties | {0} provided from Spain |
| +0Xf- 14- 1 |
14- U- 5 |
female/ 16y |
PBL | de novo | 48,XXX,+mar[100%] | min(14)(pter→q21) | CGH | facial dysmorphism, high-pitched cry, severe DD, developed an aggressive ovarian immature teratoma | {11} |
| +0Xf- 14- 2 |
14- O- q11.1/ 1-5 |
male/ prenatal |
AF | ? de novo | 48,XXX,+mar[8]/ 47,XXX[44] |
inv dup(14)(q11.1) | acro-cenM, subcenM; UPD-test | AMA; child born and normal | {0} provided from Germany |
| +0Xf- 0X- 1 |
0X- U- 11 |
female/ 44y |
PBL | n.a. | 50,XXXXX[1]/ 48,XX,+mar(X)x2[6]/ 47,XXX[12]/ 46,XX[350] |
mar(X) | wcp X | sons with FRAX | {5} |
| case no. new |
case no. old |
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 |
| +0Xm- 06- 1 |
06- CW- 3 |
male/ 32y |
PBL | de novo | 48,XXY,+mar[30]/ 47,XXY[20] |
ish mar(6)(cep6+) | all centromeric probes | Klinefelter syndrome; growth retardation at birth and at 8m of age | {1, 2} |
| +0Xm- 07- 1 |
07- U- 6 |
male/ postnatal |
PBL | n.a. | 48,XXY,+mar[30%]/ 47,XXY[70%] |
min(7)(:p11.2→q11.21:) distal clone RP11-1324A7 (57.52) distal clone in 7q RP11-196D18 (62.3MB) |
aCGH | Klinefelter-syndrome | {3} case 2 |
| +0Xm- 09- 1 |
09- U- 5 |
male/ 34y |
PBL | de novo (?) | 48,XXY,+mar[15] | dic(9)(:p12→q11.1: :q11.1→p11.1:) |
cenM; subcenM |
hypogonadism, gynecomastia, mental retardation; weakness of connective tissue | {6} case
15 {7} |
| +0Xm- 09- 2 |
09- U- 5a |
male/ postnatal |
PBL | de novo | 48,XXY,+mar[8]/ 47,XXY[17] |
mar(9) | n.a. from abstract | dysmorphic features, speech delay and mild mental retardation | {8} |
| +0Xm- 13/21- 1 |
13/21- U- 35 |
male/ prenatal |
AF | n.a. | 48,XXY,+mar[100%] | min(13or21) | cep probes, MLPA | hygroma colli, single umbilical artery | {10} case 8 |
| +0Xm- 13/21- 2 |
n.a. | male/ 4y |
PBL | n.a. | 48,XXY,+mar[100%] | min(13)(pter→q12.11~12.12) | ceps; subcenM |
DD | {0}
provided from Ecuador |
| +0Xm- 18- 1 |
n.a. | male/ prenatal |
AF | n.a. | 48,XXY,+mar[100%] | del(18)(q11.1) | STR-test;
FISH |
AMA; TOP | {19} |
| +0Xm- 20- 1 |
n.a. | male/ 35y |
PBL | n.a. | 48,XXY,+mar[13]/ 47,XXY[17] |
min(20)(:p11.1→q11.1:) | cenM,
subcenM |
Klinefelter
syndrome |
{0}
provided from Germany |
| +0Xm- 0X- 1 |
0X- U- 3 |
male/ 13m |
PBL fibroblasts |
de novo |
48,XXY,+r[20]/ 47,XXY[30] in fibroblasts. 40/10 |
r(X)(::p21→q12::) | cep X; wcp X; XIST specific probe | pregnancy and birth normal; birth weight and length <5. centile; at 13m growth retardation; DYS, symmetrically microcephalic, wide spaced eyes, small palpebral fissures, epicanthal folds, short nose, flat nasal bridge; at 2.5y DD | {13} |
| case no. new |
case no. old |
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 |
|
-0Xf- 02- 1 |
02- O- p11.1/ 1-2 |
female/ prenatal |
AF | n.a. | 45,X[5]/ 47,XX,+mar[43]/ 46,XX[2] |
r(2)(::p11.1→q11.2::) FISH-data: RP11-708D7: 95.0 MB |
cenM subcenM |
ICSI-induced pregnancy; double bubble sign and singular umbilical cord artery; child born without clinical signs | {14} |
| -0Xf- 14- 1 |
14- U- 2b |
female/ 10y |
PBL | de novo | 46,X,+mar[100%] | min(14)(pter→q11.1:) | cenM subcenM |
Turner syndrome, short stature, webbing of neck, cubitus valgus, shield chest | {15}
case P-7 {16} |
| -0Xf- 16- 1 |
n.a. | female/ prenatal |
AF | n.a. | 45,X[24]/ 46,X,+mar[18] |
min(16)(p11.2→q11.1:) | cenM subcenM |
sonographic signs | {0}
provided from
Germany |
| -0Xf- 20- 1 |
20- U- 2 |
female/ 12y |
PBL/ fibro |
n.a. | 46,X,+mar[15]/ 46,XX[35] Skin fibroblasts: mar in 35 of 50 cells |
mar(20) (D20Z1+) | different centromeric probes; telomeric probe | see below | {17} |
| Normal pregnancy; born at term by cesarean section due to failure to progress. The parents reported: always delayed in all areas: first walked at 2y, at 4y vocabulary of about 20 words. At 12y able to bath herself, make her bed and wash dishes; was in special classes; behavioral evaluation concluded that she had pervasive developmental delay with mild to moderate autism. MRI showed decreased brain volume on the left; an NMRI of the spine revealed extrusion of the L3-4 as well as a bulge at the L5 level. An MRI of the abdomen demonstrated a right atretic kidney. The parents reported episodes of sleep apnea at night and a sleep study did reveal short episodes of central sleep apnea, with an average duration of 12 s and no desaturations. Physical exam: height 125.4 cm ([lt]5%); weight 38.8 kg (25%); head circumference 50 cm (10%); down-slanting palpebral features with right-sided facial microsomia, right ear slightly over-folded. | |||||||||
| -0Xf- 22- 1 |
22- O- q11.21/ 1-4 |
female/ 42y |
PBL | n.a. | 45,X[5]/ 47,XX,+mar[14]/ 46,XX[82] |
inv
dup(22)(q11.21) FISH-data: RP11-239G23 at 16.97MB twice on sSMC |
cenM,
subcenM CES-specific BACs |
normal woman with infertility | {18} case 22-23 |
| case no. new |
case no. old |
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 |
| +0Ym- 14/22- 1 |
14/22- U- 15 |
male/ prenatal |
AF | n.a. | 48,XYY,+mar[100%] | min(14 or 22)(q11.1) | centromeric probes, subcenM | n.a. | {0} provided from Portugal |
| +0Ym- 14/22- 2 |
14/22- U- 17 |
male/ prenatal |
AF | de novo | 48,XYY,+mar[34]/47,XYY[26] also there may be a dup in DiGeorge syndrome critical region on one #22 |
inv dup(14 or 22)(q11.1) | cep 14/22 | n.a. | {12} |
| case no. new |
case no. old |
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 |
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-0Y- 0- 1 |
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