ChromosOmics - Database

Icon by Leon Liehr                   

                                                  -  X-CHROMOSOME -                                                 
NORMAL
 
 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 without clinical findings (O)

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-
O-
p11.1/
1-1
 		female/
prenatal
PL; PBL 		de novo PL: 47,XX,+mar[15]/46,XX[8]
PBL: 47,XX,+mar[13]/46,XX[2]		 min(X)(:p11.1→q11:) cenM; subcenM; UPD-test nuchal translucency in ultrasound; child born without any abnormal clinical signs {1} case 2
{2} case 2
{3} case 9
{4} case 9
***
0X-
O-
p11.1/
1-2
 		female/
prenatal 		AF de novo 47,XX,+mar[100%] min(X)?(:p11.1→q11:) cep X; XIST detected during prenatal rapid FISH-test; no ultrasound abnormalities; normal child born {24} case 1
***
0X-
O-
p11.1/
1-3
 		female/
22y 		PBL de novo 47,XX,+mar[100%] min(X)(:p11.1→q11:) cenM subcenM normal female {0} provided by Dr. P. Lonsky, Prague, Czech Rep.
0X-
O-
p11.1/
1-4
 		female/
prenatal 		AF n.a. 47,XX,+mar[100%] min(X)(:p1?1.1→q1?1:) cenM subcenM AMA, normal sonsgraphy {0} provided from Regensburg, Germany

O-Cases with similar imbalances NOT caused by sSMC (O-IMB)

case no.
 		gender/
age at diagnosis
 		studied
material
 		de novo/
Inherited
 		GTG-banding and final FISH result test
methods
 		clinical symptoms
 		Reference
0X-
O-
IMB-
p or q/
1-1 		-
 		-
 		-
 		-
 		-
 		-
 		-

O-cases with unclear/insufficient characterization of the sSMC (CO)

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-
CO-
1 		female/
prenatal		 AF/PBL de novo 47,XX,+r[2%]/
46,XX[98%]
mar present in 1.1% of PBL and 2.5% of fetal membrane 		r(X)
(it is stated in text that Xq13 might be included)		 all available centromeric probes; wcpX normal at birth {12} case 37
0X-
CO-
2
 		male/
prenatal 		AF/PBL de novo 47,XY,+mar[100%] min(X)(DXZ1+) all available centromeric probes Amniocentesis due to anxiety; normal at birth {23} case 2
0X-
CO-
3
 		male/
prenatal 		AF/PBL de novo 47,XY,+mar[6]/46,XY[17]
(AF: 15th week of gestation)
47,XY,+mar[2]/46,XY[30]
(AF: 21th week of gestation)
47,XY,+mar[6]/46,XY[18]
(PBL: 5 weeks after birth)		 r(X)
(DXZ1+,XIST-) 		SKY, XIST Amniocentesis due to abnormal maternal serum screening result - Down syndrome risk 1:138; normal at birth and 1 y {28}