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
|
0X-
U-
1 |
see
15-P-2 |
0X-
U-
2 |
see
mult 2-4 |
0X-
U-
3 |
see
+0Xm-0X-1 |
{18} |
0X-
U-
4 |
see
mult 2-8 |
0X-
U-
5
|
see
mult 2-1 |
0X-
U-
6 |
female/
1y |
PBL |
de novo |
47,X,r(X),+mar[11]/
46,X,r(X)[16]/
46,X,mar[5]/
45,X[3] |
r(X) with XIST
mar(X) without XIST |
centromeric
probe for X ; XIST probe |
see below |
{33} |
Turner
syndrome phenotype; 3d after birth by
caesarian section -→ hypoglycemia; birth
weight 3.5 kg; at 4 months staring episodes
- clonic seizures; microcephaly noticed;
mild global developmental delay, normal EEG;
at 11m persistent hypoglycemia, growth
parameters below 3rd centile; hypertelorism,
upslanting palpebral fissures, low set ears,
pelvis ultrasound showed small infantile
uterus but no ovaries. |
0X-
U-
7 to 8 |
n.a./
prenatal |
AF |
n.a. |
47,+mar[?%] |
mar(X) |
SKY |
no info
available |
{36} 2 new cases |
0X-
U-
9 |
male/
15y |
PBL |
n.a. |
47,XYqh-,+mar[8]/
46,XYqh-[12] |
min(X)(:p11.2→q11:) |
subcenM |
no info
available |
{0} provided by Dr.
Iourov, Moscow, Russia |
0X-
U-
10 |
female/
prenatal |
PBL |
n.a. |
47,XX,+mar[100%] |
min(X)(:p11.21→q11.2:)[3]/
r(X)(::p11.21→q11.2::)[3] |
cenM
subcenM |
no info
available |
{0} provided from Serbia |
0X-
U-
11 |
see +0Xf-0X-1 |
{45} |
0X-
U-
12 |
female/
prenatal |
chord PBL |
n.a. |
48,XY,+marx2[35%]/
47,XY,+mar[35%]/46,XY[30%] |
min(X)(:p11.1→q11.1:) |
cenM
subcenM |
no info
available |
{0} provided from Serbia |
|
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
|
0X-
Ud-
1 |
female phenotype; male karyotype/
14y |
PBL
fibroblasts
|
n.a. |
47,XY,+mar[9]/46,XY[11]
skin: 47,XY,+mar[47]/
46,XY[18]
|
der(X)(:p21.2→p21.2:
:p11.21→q11.1:)
aCGH hg19: 29.449784-31.48
1104 and 56.701105-58.594648 Mb |
aCGH |
primary
amenorrhea and absence of breast development |
{46} |
|