ChromosOmics - Database

Icon by Leon Liehr                   

                                                  -  CHROMOSOME #14/22 -                                                 
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(14)mat UPD(14)pat UPD(14)mat or pat
UPD (uniparental disomy) cases: UPD(22)mat UPD(22)pat UPD(22)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
14/22-
O-
q11.1/
1-1		 male/
prenatal		 AF paternal
(3/50 mitosis with mar)		 47,XY,+mar[15]/
46,XY[5]		 min(22)(pter→q11.1:) or min(14)(14pter→14q11.1) cenM;
subcenM		 Amniocentesis due to polyhydramnion in this twin; no ultrasound abnormalities; father clinically normal {43} case 14/22-O-q11.1/1-1
14/22-
O-
q11.1/
1-2		 female/
prenatal		 AF de novo 47,XX,+mar[100%] min(22)(pter→q11.1:) or min(14)(14pter→14q11.1)* pericentric BAC-probe set normal {37} case 9
14/22-
O-
q11.1/
1-3		 female/
27y		 PBL n.a. 47,XX,+mar[24]/
46,XX[6]		 min(22)(pter→q11.1:) or min(14)(14pter→14q11.1) cenM;
subcenM		 normal female, infertile {43} case 14/22-O-q11.1/1-3
14/22-
O-
q11.1/
2-1		 female/
prenatal		 AF de novo
47,XX,+mar[9]/
46,XX[11]
inv dup(14 or 22)(q11.1)		 all centromeric probes AMA; normal child born; no abnormalities at age of 20m {7;8;9} case 8
14/22-
O-
q11.1/
2-2		 male/
n.a. adult		 PBL n.a. 47,XY,+mar[15] inv dup(14 or 22)(q11.1) all centromeric probes Healthy male detected as SMC carrier as daughter with SMC had Rett syndrome like features {7;8;9} father of case 9
14/22-
O-
q11.1/
2-3
female/
n.a.
adult		 PBL n.a. 47,XX,+mar[100%] inv dup(14 or 22)(q11.1)* all available centromeric probes normal at birth of daughter with same sSMC {8} mother of case 11
14/22-
O-
q11.1/
2-4		 female/
prenatal		 AF de novo 47,XX,+mar[100%] inv dup(14 or 22)(q11.1)* all available centromeric probes AMA; baby normal at birth and at 2.5 m {8; 9} case 27
14/22-
O-
q11.1/
2-5		 male/
39y		 PBL n.a. 47,XY,+mar[100%] inv dup(14 or 22)(q11.1)* cenM, subcenM normal female, detected due to a boy with sSMC and DD {43} case 14/22-O-q11.1/2-5
14/22-
O-
q11.1/
2-6		 female/
adult		 PBL n.a. 47,XX,+mar[100%] inv dup(14 or 22)(q11.1)* different FISH-probes normal male, cytogenetic study due to planned ICSI {33} mother of case 13
14/22-
O-
q11.1/
2-7		 male/
prenatal		 AF mat
47,XY,+mar[100%]		 inv dup(14 or 22)(q11.1) pericentric BAC-probe set normal as mother {37} case 8
14/22-
O-
q11.1/
2-8		 female/
42y		 PBL n.a. 47,XX,+mar[100%] inv dup(14 or 22)(q11.1) cep normal but infertile {43} case 14/22-O-q11.1/2-8
14/22-
O-
q11.1/
2-9		 male/
33y		 PBL n.a. 47,XY,+mar[23]/
46,XY[7]		 inv dup(14 or 22)(q11.1) cep repeated abortions in partnership
 {43} case 14/22-O-q11.1/2-9
14/22-
O-
q11.1/
2-10		 male/
adult		 PBL n.a. 47,XY,+mar[24]/
46,XY[26]		 inv dup(14 or 22)(q11.1) cep normal but infertile {43} case 14/22-O-q11.1/2-10
14/22-
O-
q11.1/
2-11 to 2-13
 female/
adult		 PBL n.a. 47,XX,+mar inv dup(14 or 22)(q11.1) cep
aCGH
 normal but infertile {42} 3 cases
14/22-
O-
q11.1/
2-14 to 2-24
 n.a./
adult		 PBL n.a. 47,XN,+mar inv dup(14 or 22)(q11.1) cep
 normal but infertile {44} 11 cases
14/22-
O-
q11.1/
2-25
 male/
prenatal
 AF mat
 47,XY,+mar inv dup(14 or 22)(q11.1) cep
 normal mother {45}
14/22-
O-
q11.1/
3-1		 female/
prenatal		 AF de novo 49,XX,+3mar[9]/
48,XX,+2mar[6]/
46,XX[17]		 all sSMC:
inv dup(14 or 22)(q11.1)		 cenM, subcenM AMA- sonography normal, normal girl born {43} case 14/22-O-q11.1/3-1

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
14/22-
O-
IMB-
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
14/22-
CO-
1 to 4		 male or female/
prenatal		 AF de novo or maternal 47,+mar[50-100%] inv dup(14 or 22) case 5 or min(14or 22) cases 4; 6-7 different FISH-probes:
all centromeric probes		 normal at birth or autopsy {4} cases 4-7
14/22-
CO-
5 to 6		 n.a. {3}
male {6}/
prenatal		 AF
PBL		 de novo 47,+mar[88%]/
46[12%]
postnatal: mar in 87%		 min(14 or 22) midi AMA; twin pregnancy - only one twin with marker. At age of 18 m both twin developed normal {3}; male of {6} normal at birth {3} case 1
{6} case 1
14/22-
CO-
7		 n.a./
prenatal		 AF de novo 47,+mar min(14 or 22) n.a. n.a. {14}   1 case
14/22-
CO-
8		 female/
prenatal		 AF de novo 47,XX,+mar[100%] inv dup(14 or 22) different FISH-probes:
all centromeric probes		 AMA, none at age of 6m; at 16m familial nerve deafness {2} case 1
14/22-
CO-
9 to 10		 male/
prenatal		 AF de novo 47,XY,+mar[26% or 100%] mar(14/22) all centromeric probes AMA; children normal at 5m and 9y, respectively {10} case 2, 3
14/22-
CO-
11		 male/
adult		 PBL n.a. 47,XY,+mar mar(14 or 22) all centromeric probes Oligozoospermia; normal male {11} case 20
{30} case 42
{39} case 14/22-1
14/22-
CO-
12		 male/
prenatal		 AF de novo 47,XY,+mar[34]/
46,XY[6]		 mar(14 or 22) all centromeric probes
AMA; born at full term (birth weight 3,685 g). At 3 m phenotypically normal		 {19} case 4
14/22-
CO-
13		 male/
prenatal		 AF de novo 47,XY,+mar[12]/
46,XY[12]		 mar(14 or 22) all centromeric probes; wcp 14; wcp 22; UPD-test AMA. Delivery by repeat caesarian section at term; phenotypically normal also at 22m of age {19} case 7
14/22-
CO-
14		 n.a./
prenatal		 AF maternal (mother with 2 sSMC, too) 48,+marx2[100%] 2x mar(14 or 22) all centromeric probes Amniocentesis due to risk for sickle cell anemia; mother and child normal {19} case 12
14/22-
CO-
15		 female/
prenatal		 AF maternal
47,XX,+mar[100%] mar(14 or 22) all centromeric probes AMA, mother and child normal {19} case 14
14/22-
CO-
16		 female/
prenatal		 AF de novo 47,XX,+mar[100%] mar(14 or 22) all centromeric probes AMA, normal at birth {22} case 41
14/22-
CO-
17		 female/
prenatal		 AF de novo 47,XX,+mar[7]/
46,XX[9]		 mar(14 or 22) all centromeric probes AMA, normal at 3m {22} case 42
14/22-
CO-
18		 male/
prenatal		 AF de novo 47,XY,+mar[100%] mar(14 or 22) all centromeric probes Amniocentesis due to multiple marker serum screening, normal at 3.5y {22} case 43
14/22-
CO-
19		 male/
prenatal		 AF de novo 47,XY,+mar[100%] mar(14 or 22) all centromeric probes AMA, normal at 6m {22} case 44
14/22-
CO-
20		 female/
prenatal		 AF de novo 47,XX,+mar[100%] mar(14 or 22) all centromeric probes AMA, normal at 5m {22} case 45
14/22-
CO-
21 to 24		 2x female/
2x male/
prenatal		 AF maternal 47,+mar[100%] mar(14 or 22) all centromeric probes AMA, mothers normal - no info on children {22} case 46-48, 51
14/22-
CO-
25 to 26		 female/
male/
prenatal		 AF paternal 47,+mar[100%] mar(14 or 22) all centromeric probes AMA, fathers normal - no info on children {22} case 49-50
14/22-
CO-
27		 male/
prenatal		 AF paternal 48,XY,+marx2[8]/
47,XY,+mar[7]		 mar(14 or 22) all centromeric probes AMA, father normal - no info on children {22} case 51
14/22-
CO-
28		 n.a./
postnatal/ adult		 PBL/ AF familial 47,+mar[100%] mar(14 or 22) centromeric probes Amniocentesis due to known familial sSMC {23} case 11
14/22-
CO-
29		 male/
postnatal/ adult		 PBL n.a. 47,XY,+mar[100%] mar(14 or 22)
in interphase in blood: 82% of 176 cells with 5 or more signals		 centromeric probes implantation failure {24} case 8
{30} case 43
{39} case 14/22-2
14/22-
CO-
30		 male/
postnatal/ adult
PBL		 n.a. 47,XY,+mar[100%] mar(14 or 22)in interphase in blood: 35% of 114 cells with 5 or more signals centromeric probes Astenozoospermia {24} case 9
{30} case 44
{39} case 14/22-3
14/22-
CO-
31		 male/
postnatal/ adult
PBL		 n.a. 47,XY,t(14;21),+mar[?%]/
46,XY,t(14;21)[?%]		 mar(14 or 22) centromeric probes recurrent miscarriages {24} case 10
{30} case 45
{39} case 14/22-4
14/22-
CO-
32 to 34		 n.a./
prenatal
AF		 2x paternal; 1x de novo 47,+mar[?%] inv dup(14 or 22) n.a. normal fathers and/ or normal ultrasound {31} 3 cases
14/22-
CO-
35 to 36		 female and male/
prenatal
AF		 n.a. 47,+mar[92 or 100%]/
46[8 or 0 %%]		 mar(14 or 22) aCGH normal children born {35} cases 28-29
14/22-
CO-
37 		female/
11y 		PBL mat 47,XX,+mar[45]/
46,XX[5] 		mar(14 or 22) cep probes
M-FISH 		short stature; mother normal {40} case 8
14/22-
CO-
38 		male/
prenatal 		AF mat 47,XY,+mar[100%] mar(14 or 22) cep AMA, mother normal {41} case P12