ChromosOmics - Database

Icon by Leon Liehr                   

                                                  -  CHROMOSOME #7 -                                                 
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(7)mat UPD(7)pat UPD(7)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
07-
O-
p11.2/
1-1
female/
prenatal 		AF de novo 47,XX,+mar[10]/
46,XX[12] 		min(7)(:p11.2→q11.22:)
FISH-data: RP11-10F11 (56.45 MB) on sSMC
array-data: 61.6-67.0 MB 		cenM; subcenM;
UPD-test 		see below {1} case 12
{0}
Amniocentesis due to AMA and a chronic myleogeneous leukemia under interferon-therapy of the father; child born without any signs of dysmorphism
07-
O-
p11.2/
2-1 		female/
prenatal 		AF, PBL
(EKF-
cellbank) 		maternal 47,XX,+mar[100%]
min(7)(:p11.2→q11.1:)
FISH-data: RP11-10F11 (56.45 MB)		 cenM;
subcenM 		 AMA; mother normal; normal child born {0} provided by Dr. Kozlowski, Düsseldorf, Germany
***
07-
O-
p11.2/
2-2 		female/
40y 		PBL
 		n.a. 47,XX,+mar[15]/
46,XX[17]
min(7)(:p11.2→q11.1:)
aCGH [hg19]: 54.549-57.510
 aCGH;
subcenM 		normal, but abnormal child {0} provided by Dr. Henze; Mannheim, Germany
07-
O-
p11.1/
1-1 		female/
24y 		PBL n.a. 47,XX,+mar[82%]/
46,XX[18%] 		min(7)(:p11.1→q11.21:) cenM;
subcenM 		infertile {43} case 7-1

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
07-
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
07-
CO-
1 		male/
adult 		PBL de novo 47,XY,+mar[?]/
46,XY[?] 		dic(7) cep probes infertile male {18} case 8
{43} case 7-2
07-
CO-
2
 		male/
prenatal 		AF de novo 47,XY,+mar[100%] mar(7) cep probes? normal at 7 days {22} case 58
{27} case 11
07-
CO-
3
 		male/
41y 		PBL n.a. 47,XY+mar[14]/
46,XY[26] 		mar(7) cep probes? infertile male {48}