ChromosOmics - Database

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                                                  -  non-acro- CHROMOSOME -                                                 
ABNORMAL
Cases with clinical findings (W)

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
u-
W-
1 		male/
6m
PBL		 de novo 47,XY,+mar[100%] mar stains only with a reverse painting probe of itself midi and flow sorting with rev FISH born at term and well at birth; delayed milestones; divergent squint; nystagmus at age of 18m; ears low-set and prominent; {8; 10, 11}
{12} case 5
u-
W-
2		 female/
prenatal 		female/
prenatal 		n.a. 47,XX,+mar[100%] mar stains only with a reverse painting probe of itself midi with rev FISH no clinical info available {11}
u-
W-
3
 		see u-Uc-1
-
 		-
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W-Cases with similar imbalances NOT caused by sSMC (W-IMB)

case no.
 		gender/
age at diagnosis
 		studied
material
 		de novo/
Inherited
 		GTG-banding and final FISH result test
methods
 		clinical symptoms
 		Reference
u-
W-
IMB-
1 		-
 		-
 		-
 		-
 		-
 		-
 		-

W-cases with unclear/insufficient characterization of the sSMC (CW)

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
u-
CW-
1 		-
 		-
 		-
 		-
 		-
 		-
 		-
 		-