ChromosOmics - Database

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                                                  -  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)(:p11.2→q11:) subcenM no info available {0} provided from Russia
0X-
U-
10		 female/
prenatal		 chord blood
 de novo
 47,XX,+mar[100%] min(X)(:p11.21→q11.2:)[3]/
r(X)(::p11.21→q11.2::)[3]		 cenM
subcenM		 TOP {47} case 5
0X-
U-
11		 see +0Xf-0X-1 {45}
0X-
U-
12		 female/
10y		 PBL
skin
 n.a.
 45,X/47, XX,+mar/
46,XX
diferent mosaics ihn skin and blood
 mar(X)(p21.1→q11.1)
hg19: break in Xp at 36.03 Mb		 aCGH DD, DYS
skin pigmentary mosaicism
 {48} case 1

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)(:p21.2→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}

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-		 -
 		-
 		-
 		-
 		-
 		-
 		-
 		-