ChromosOmics - Database

Icon by Leon Liehr                   

                                                  -  CHROMOSOME #17 -                                                 
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(17)mat UPD(17)pat UPD(17)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
17-
O-
p11.2/
1-1 		male/
40y 		PBL de novo 47,XY,+mar[10]/
46,XY[5] 		min(17)(:p11.2→q11.1:)
FISH-data: RP11-746M1 (20.82) on sSMC 		cenM;
subcenM 		ICSI-patient of 40 years; primary sterility due to asthenospermia {1} case 25
{2} case shown in Fig. 10
{3} case 13
{43} case 94
{63} case 17-1
17-
O-
p11.2/
1-2 		male/
40y 		PBL n.a. 47,XY,+mar[7]/
46,XY[8] 		min(17)(:p11.2→q11.1:)
FISH-data: RP11-746M1 (20.82) on sSMC 		cenM;
subcenM 		normal, infertile {0} provided from Spain
17-
O-
p11.2/
2-1 		see McCl-17-O-p11.2/2-1
***
17-
O-
p11.2/
3-1 		female/
prenatal 		AF de novo 47,XX,+mar[90%]/
46,XX[10%] 		min(17)(:p11.2→q11.2:)
array: 18.68-23.32 MB 		cenM;
subcenM, midi; aCGH, UPD-test 		at 2 years: Normal child - without malformations, DYS nor DD {0} provided by Joana Melo, Coimbra, Portugal
17-
O-
p11.1/
1-1
female/
prenatal 		AF de novo 47,XX,+mar[100%] min(17)(:p11.1→q11.1:)* all cep probes and probes for 17p11.2 and 17p13.3 prenatal cytogenetics due to a previous child with Angelman syndrome; normal child born; normal at 18m {52}
{62} case 16

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
17-
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
17-
CO-
1 		female/
prenatal 		AF de novo 47,XX,+mar[36]/
46,XX[17] 		r(17)(::p1?1→q1?1::)* centromeric probes, wcp 17 AMA; normal at age of 3m {25} case 30