ChromosOmics - Database

Icon by Leon Liehr                   

                                                  X-CHROMOSOME -                                                 
UNCLEAR
 
Cases without clinical findings
Similar imbalances – no sSMC
Cases with clinical findings
Similar imbalances – no sSMC
Cases without clear clinical correlation
Cases with discontinous sSMC
Cases with complex sSMC
Cases with UPD and sSMC
Cases with neocentromeres
Similar imbalances - no sSMC
Tumor
DISCLAIMER
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(X)mat UPD(X)pat UPD(X)mat or pat

Cases with unclear clinical correlation (U)

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)(:p11.2q11:) 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)(:p11.21q11.2:)[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)(:p11.1q11.1:) cenM
subcenM
no info available {0} provided from Serbia

Cases with complex sSMC (Uc)

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-
Uc-
1
-
-
-
-
-
-
-
-

Cases with discontinous sSMC (Ud)

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)(:p21.2p21.2:
: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}

Cases with UPD (Uu)

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-
Uu-
1
-
-
-
-
-
-
-
-
-