ChromosOmics - Database

Icon by Leon Liehr                   

                                                  -  acro-CHROMOSOME -                                                 
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!
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
acro-
O-
1		 male/
39y		 PBL n.a. 47,XY,+mar (bisatellited) n.a. n.a. five consecutive spontaneous abortions of partner and no live born children {1} case 1
acro-
O-
2		 male/
31y		 PBL familial
(3 generations)
47,XY,+mar (bisatellited)		 n.a. n.a. 9 years of infertility in partnership before first child {1} case 2
acro-
O-
3
 female/
27y		 PBL n.a. 47,XX,+mar (metacentric) rev ish. acrop++ midi normal woman - a child was lost a week 16 due to a karyotype 46,X,+mar {8} case 2
acro-
O-
4		 see acro-N-mar/2
acro-
O-
5		 male/
29y		 PBL n.a. 47,XY,+mar (metacentric)[25%]/
46,XY[75%]		 inv dup (acro)(p10) cenM, M-FISH, acro-cenM normal phenotype and no children in connection with OAT III syndrome {9} case 111
acro-
O-
6		 male/
23 or 32y		 PBL n.a.
47,XY,+mar (metacentric)[80%]/
46,XY[20%]		 inv dup (acro)(p10)* M-FISH
normal phenotype with infertility and azoospermia		 {10; 12}
acro-
O-
7		 male/
adult		 PBL n.a. 47,XY,+mar (metacentric)[23]/
46,XY[7]		 inv dup (acro)(p10) acro-cenM
midi		 normal phenotype infertile {0} provided from Ukraine
acro-
O-
8		 male/
adult		 PBL n.a. 47,XY,+mar (metacentric)[50%]/
46,XY[50%]		 inv dup (acro)(p10) acro-cenM normal phenotype infertile {0} provided from Turkey
acro-
O-
9		 female/
28y		 PBL n.a. 47,XX,+mar[100%] inv dup (acro)(p10) acro-cenM normal phenotype infertile {0} provided from Germany
acro-
O-
10
 male/
42y		 PBL
(EKF-
cellbank)
 n.a. 47,XY,+mar[100%] inv dup (acro)(p10) acro-cenM normal phenotype infertile {0} provided from Spain
acro-
O-
11/
1 to 2
 male/
adult
 PBL n.a. 47,XY,+mar[100%] inv dup (acro)(q10) cep 15
 normal phenotype infertile {14} cases 3 and 8
acro-
O-
12
 male/
39y		 PBL
 n.a. 47,XY,+mar[100%] inv dup (acro)(p10) acro-cenM
D15Z1, D22Z4
 normal phenotype infertile {0} provided from Germany
acro-
O-
13
 female/
29y		 PBL
 n.a. 47,XX,+mar[40]/
46,XX[12]		 inv dup (acro)(p10) acro-cenM
D15Z1, D22Z4
 normal phenotype infertile {0} provided from Germany
acro-15
O-
1		 male/
prenatal		 AF n.a. 47,XY,+mar (metacentric)[35%]/
46,XY[65%]		 inv dup (15)(p10)
D15Z1 in 15q11.2 present twice, but no alpha-satellite		 acro-cenM AMA {0} provided from Czech Rep

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
acro-
O-
IMB-
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
acro-
CO-
1 		-
 		-
 		-
 		-
 		-
 		-
 		-
 		-