ChromosOmics - Database

Icon by Leon Liehr                   
https://pubmed.ncbi.nlm.nih.gov/38174048/

                                                  -  CHROMOSOME #11 -                                                 
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(11)mat UPD(11)pat UPD(11)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
11-
O-
p15.1/
1-1		 see McCl-11-O-p15.1/1-1
***
11-
O-
p11.2/
1-1		 male/
40y		 PBL n.a. 47,XY,+mar[100%] r(11)(::p11.12→q12.2::)
SNP-data: 50,952,568-60,230,397		 aCGH; humanCytoSNP-12v2; Illumina Karyostudio v1.2; UPD-test IVF patient; hypoplastic testes bilat., FSH elevation {42} case 11-1
***
11-
O-
p11.2/
2-1		 male/
prenatal		 AF mat
sSMC in 10/23 cells
 47,XY,+mar[100%] min(11)(:p11.12→q11:)
FISH: in 11p: hg19: 48,303671 Mb
 cenM, subcenM
 mother normal
 {47} case 2
11-
O-
p11.1/
1-1		 male/
prenatal		 AF de novo 47,XY,+mar[50%]/
46,XY[50%]		 min(11)(:p11.1→q11:) cenM; subcenM; UPD-test AMA; ultrasound of fetus was normal. Normal child was born. Child normal at 1 month {47} case 3
11-
O-
p11.1/
1-2		 male/
prenatal		 AF de novo
47,XY,+mar[21]/
46,XY[32]		 min(11)(:p11.1→q11:) cenM; subcenM AMA; Normal child was born. Child normal at 3 months {47} case 4
11-
O-
p11.1/
1-3		 female/
prenatal		 AF de novo 47,XX,+mar[18]/
46,XX[4]		 min(11)(:p11.1→q11:)* SKY; aCGH (no imbalance), cep AMA; Normal child was born. Child normal at 2 months {43}
11-
O-
p11.1/
2-1		 female/
24y		 PBL n.a.
 47,XX,+mar[30] r(11)(::p11.1→q12.2::)[10]/
r(11)(::p11.1→q12.2:
:q12.2→p11.1::)[7]/
min(:q12.2→p11.1:
:p11.1→q12.2:)[3]
FISH-data: RP11-77M17 (57.28) on sSMC		 cenM; subcenM; UPD-test normal female; sSMC detected due to DD, muscular hypotonia, macrocephaly in 5m old daughter {47} case 6
11-
O-
p11.1/
3-1		 male/
39y		 PBL n.a. 47,XY,+mar[100%] min(11)(:p11.1→q12.1:)
breakpoint in q (hg19):
59.319390 Mb		 cenM; subcenM, aCGH
 normal male
infertile
 {47} case 8

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
***
11-
O-
IMB-
p11.2/
1-1 		female/
prenatal 		AF; PBL de novo 46,XX,dup(11)(p11.2q11.1)
FISH: in 11p: hg19: 48,303671 Mb
 subcenM
 		normal child at 2 years {25}
11-
O-
IMB
p11.11/
1-1 		female/
39y 		PBL
n.a. 		46,XX,dup(11)(p11.1q11) cep probe 11 normal pregnant women - also in unborn child and later born normal child {24}

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
11-
CO-
1 		female/
34y 		PBL paternal
father with sSMC in 59% of PBL and 31% of fibroblasts 		47,XX,+mar[60%]/
46,XX[40%] 		r(11) centromeric probes including cep11; telomeric probes; electron microscopy presence of sSMC in father who suffered from progressive systemic sclerosis and complete CREST syndrome, starting at 59y of age {7}
11-
CO-
2
 		male/
prenatal 		AF de novo 47,XY,+mar[32]/
46,XY[12] 		r(11)(::p1?1→q1?1::)* different centromeric probes, wcp 11, 2 centromere near (?) BACs AMA, normal child born, normal at 3 months {15} case 29
{16} case 26