ChromosOmics - Database

Icon by Leon Liehr                   

                                                  -  CHROMOSOME #(1)/5/19 -                                                 
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
05/19-
W-
1 		male/
child 		PBL n.a.
47,XY+mar1[14]/ 47,XY,+mar2[2] 		min(1)(:p11→q11:) or min(5)(:p11→q11.1:) or min(19)(:p11→q11)
(mar2 is duplication of mar1) 		cenM, subcenM, 1q12 hyperactivity, short stature, high arched palate. Long face. Short fingers. relatively large penis {0} provided from Israel
05/19-
W-
2 		female/
12y 		PBL n.a. 47,XX,+mar[70%]/
46,XX[30%] 		min(1)(:p11→q11:) or min(5)(:p11→q11.1:) or min(19)(:p11→q11) cenM, subcenM DD, MR, freckles GGB02438F, 2197 provided by Teleton foundation, Italy

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
05/19-
W-
IMB-
p or q/
1-1 		-
 -
 -
 -
 -
 -
 -

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
05/19-
CW-
1
male/
prenatal 		CH/PBL de novo 47,XY,+mar1[27%]/
47,XY,+mar2[13%]/
47,XY,+mar3[20%]/
46,XY[40%]
see below
 mar1 = min(5 or 19)
mar2 = dic(5 or 19)
mar3 = ? 		FISH with all available centromeric probes see below {3} case 11
Chorion biopsy due to advanced maternal age; at 14m large head (98. centile, frontal bossing, epicanthic folds, hypotonia, DD.
(in CH mar in 60%; at birth mar in 60% of PBL; frequency given above is from 14m)
05/19-
CW-
2 		n.a./
prenatal 		AF de novo 47,+mar[?%] r(1 or 5 or 19) n.a. cystic hygroma, TOP {7} 1 case