ChromosOmics - Database

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                                                  -  CHROMOSOME #(1)/5/19 -                                                 
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(1)mat UPD(1)pat UPD(1)mat or pat
UPD (uniparental disomy) cases: UPD(5)mat UPD(5)pat UPD(5)mat or pat
UPD (uniparental disomy) cases: UPD(19)mat UPD(19)pat UPD(19)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
05/19-
O-
p11/
1-1 		female/
36y 		PBL n.a. 47,XX,+mar[50%]/
46,XX[50%] 		min(5)(:p11→q11.1:) or min(19)(:p11→q11:) cenM,
subcenM 		normal woman, unfulfilled wish for children {0} provided from Germany
05/19-
O-
p11/
1-2 		male/
36y 		PBL n.a. 47,XY,+mar[100%] min(1)(:p11→q11.1:)  or min(5)(:p11→q11.1:) or min(19)(:p11→q11:) midi normal man, infertile {0} provided from 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
05/19-
O-
IMB
p or q/
1-1 		-
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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
05/19-
CO-
1 		female/
1m 		PBL
cell line at ECACC DD0617 		de novo 47,XX,+mar[50%]/
46,XX[50%]
in cell line no marker acc to {5}
mar
(5 or 19) 		FISH with all available centromeric probes; UPD-test clinically normal; studied due to failure to thrive, severe floppiness and pneumonia at 3w. {1} case 20
{3} case 10
{5} case 16}
05/19-
CO-
2
 male/
prenatal
AF 		de novo
47,XY,+mar[28]/
46,XY[22]		 r(1 or 19) FISH with all available centromeric probes, telomeric probes see below {4} case 5
Amniocentesis due to a Down syndrome risk of 1/170 on maternal serum triple marker screening, child born at 41 weeks gestation, and at three months of age was reported to be phenotypically normal.
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