ChromosOmics - Database

Icon by Leon Liehr                   

                                                  -  CHROMOSOME #6 -                                                 
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(6)mat UPD(6)pat UPD(6)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
06-
O-
p22.3/
1-1		 see McCl-06-O-p22.3/1-1 {12}
{32} case 10
06-
O-
p12/
1-1		 female/
prenatal		 AF, chord blood de novo 47,XX,+mar[74%]/
46,XX[26%]
in chord blood mar in 87%		 min(6)(:p12→q11:) all centromeric probes; wcp 6, RX-FISH at 4y child normal {20} case 2
***
06-
O-
p12.3/
1-1		 female/
33y
 PBL n.a. 47,XX,+mar[47%]/
46,XX[53%]		 min(6)(:p12.3→q11.1:)
aCGH [hg19]:
bp in p-arm
48,941,609 Mb		 subcenM
aCGH		 normal with spontaneous abortions
 {0} provided from Greece
06-
O-
p12.1/
1-1		 male/
prenatal		 AF de novo 47,XY,+mar[100%] min(6)(:p12.1→q13:)
aCGH[hg19]: 55.22-72.28Mb		 aCGH normal child born {44}
06-
O-
p11.2~
p11.1/
1-1		 see McCl-06-O-p11.2~p11.1/1-1
06-
O-
p11.2/
1-1		 male/
36y		 PBL n.a. 47,XY,+mar[60%]/
46,XY[40%]		 min(6)(:p11.2→q11.1:) cenM, subcenM infertile {0} provided from  Germany
06-
O-
p11.1/
1-1		 female/
prenatal		 AF de novo 47,XX,+mar[26]/ 46,XX[5] min(6)(:p11.1→q11.1:)
no euchromatin on sSMC detectable		 cenM, subcenM
and probes in {15}
aCGH;
UPD-test		 AMA, no ultrasound abnormalities; normal child born in gestational week 39+6 {16} case 6-2
{15} case 38
{0}
{39} case Sm-2
06-
O-
p11.1/
1-2		 female/
39y
PBL		 n.a. 47,XX,+mar[30]/
46,XX[23]		 min(6)(:p11.1→q11.1:) cenM, subcenM normal female, infertile {0} provided from Germany
06-
O-
p11.1/
1-3		 n.a./
postnatal
PBL		 n.a. 47,XN,+mar[?%] r(6)(:p11.1→q11.1:) cep, MCB
 normal , infertile {47} 1 case
06-
O-
p11.1/
1-4		 female/
29y
PBL		 n.a. 47,XX,+mar[5]/
46,XX[10]		 min(6)(:p11.1→q11.1:) cenM, subcenM normal female, infertile {0} provided from Germany
06-
O-
p11.1/
2-1		 male/
35y		 PBL
(EKF-
cellbank)		 n.a. 47,XY,+mar[100%] dic(6;6)(:p11→q11:
:p11→q11:)		 cenM, subcenM infertility 43} case 6-1

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
06-
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
06-
CO-
1 		female/
prenatal 		AF maternal
(no info on mosaic status) 		47,XX,+r[?]/
46,XX[?] 		ish r(6)(D6Z1+) FISH with all available centromeric probes normal at 5m; mother clinically normal
{8}
06-
CO-
2 		male/
prenatal 		AF, PBL de novo 47,XY,+mar[6]/
46,XY[10]
in PBL mar in 8 of 20 		ish r(6)(cep+;wcp6+)
aCGH: no result 		all centromeric probes; wcp 6, aCGH at 9 months child normal, grossly normal at 2y {11} case 2
{21} case 57
{34} case 2