ChromosOmics - Database

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                                                  -  CHROMOSOME #8 -                                                 
NORMAL

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
08-
 O-
p23.1/
1-1		 female/
30y		 PBL n.a.
47,XX,+mar[27%]/
46,XX[73%]		 r(8)(::p23.1→q1?1::)/*r(8;8)(::p23.1→q1?1::p23.1→q1?1::), proportion unknown
different FISH-probes: telomeric probe; all wcp in an array; GATA 4 in 8p23.1		 no phenotypic signs - intelligence normal {9} case 3
{101}
08-
O-
p21.1/
1-1		 female/
prenatal		 AF n.a. 47,XX,+mar[10]/
46,XX[20]
mar(8)(:p21.1→q11.1:)
aCGH: 29.48-43,95 MB		 aCGH AMA; no phenotypic signs at birth {100} case 10
08-
O-
p11.2?3/
1-1		 female/
29y		 PBL n.a. 47,XX,+mar[18]/
46,XX[32]		 r(8)(::p11.2?3→q11.1::) cenM;
subcenM		 normal female
 {0} provided from Germany
08-
O-
p11.22~
11.21/
1-1		 female/
prenatal		 AF n.a. 47,XX,+mar[67%]/
46,XX[33%]		 min(8)(:p11.22~11.21→q11.1:)
FISH-data: RP11-503E24 at 42.5MB on sSMC		 cenM;
subcenM		 AMA; no ultrasound abnormalities; normal child born, normal at 14 months {0} provided from Germany
08-
O-
p11.21/
1-1		 female/
prenatal		 AF maternal 47,XX,+mar[43]/
46,XX[7]		 r(8)(::p11.21→q11.1::)
FISH-data: RP11-64C22 at 42.5MB on sSMC		 M-FISH; cenM; subcenM;
telomere-probes		 AMA; no ultrasound abnormalities; mother without any clinical signs; normal child born {1} case 14
{2} cases 2 and 12
{4} case 2
08-
 O-
p11.21/
1-2		 male/
prenatal		 AF n.a. 47,XY,+mar[25]
46,XY[2]		 r(8)(::p11.21→q11.11::)
42.64-47.06MB		 SKY, MLPA, aCGH; UPD-test AMA; normal child born, apart from multicystic kidney disease and mild ventriculomegaly {89}
08-
O-
p11.21/
2-1		 male/
30y		 PBL n.a. 47,XY,+mar[44]/
46,XY[6]		 min(8)(:p11.21→q11.1:)
FISH-data: RP11-503E24 at 42.5MB on sSMC
aCGH: 39,019,000-43,330,000 MB		 cenM; subcenM
aCGH		 normal male - infertility {109} case 8-1
08-
O-
p11.21/
2-2		 female/
prenatal		 AF n.a. 47,XX+mar[37]/
46,XX[23]		 min(8)(:p11.21→q11.1:)
 cenM; subcenM
 minor heart defect (ARSA)
 {0} provided from Germany
08-
O-
p11.21/
2-3		 female/
29y		 PBL n.a. 47,XX,+mar[100%] min(8)(:p11.21→q11.1:)
 cenM; subcenM
 normal female - infertility {0} provided from Germany
08-
O-
p11.21/
2-4		 male/
45y		 PBL n.a. 47,XY,+mar[23]/
46,XY[7]		 min(8)(:p11.21→q11.1:)
 cenM; subcenM
 normal male - infertility {0} provided from Germany
***
08-
O-
p11.21/
3-1
 		female/
prenatal		 AF n.a. 47,XX,9ph+,+mar[15]
46,XX,9ph+[10]		 r(8)(::p11.21→q12.1::)
FISH-data: RP11-503E24 at 42.5MB and RP13-116A4 at 48.3MB and RP11-114M5 at 59.62 on sSMC
aCGH: 40.868,000-61.329,000 Mb; confirmed by FISH using BACs 		cenM; subcenM
aCGH		 AMA; normal child born; normal at 14m of age {0} case provided from Germany
08-
O-
p11.21/
4-1		 female/
35y		 PBL n.a. 47,XX,+mar[60%]/
46,XX[40%]		 min(8)(:p11.21→q11.21:) cenM; subcenM normal male, infertile {0} provided from Germany
08-
O-
p11.21/
4-2		 male/
37y		 PBL n.a.  47,XY,+mar[24]/
46,XY[6]		 min(8)(:p11.2?1→q11.2?1:) cenM; subcenM normal male, infertile; OAT syndrome
 {0} provided from Germany
08-
O-
p11.21/
4-3		 female/
adult
 PBL n.a.  47,XY,+mar[100%] r(8)(:p11.2?1→q11.2?1:) cenM; subcenM normal female, infertile {0} provided from Spain
08-
O-
p11/
1-1		 female/
prenatal		 AF de novo 47,XX,+mar[16]/
46,XX[7]		 min(8)(:p11→q11:) M-FISH; cenM; UPD-test AMA; no ultrasound abnormalities; no clinical symptoms 2 years after birth {2} case 3
{4} case 3
{109} case 8-2
08-
O-
p11/
1-2		 female/
prenatal		 AF, PBL
(EKF-
cellbank) 		de novo 47,XX,+mar[33]/
46,XX[2]		 min(8)(:p11→q11:)
interphase cytogenetics with centromeric probe 8 in uncultured amniocytes: cep8x3[64]/cep8x2[62]		 cenM;
UPD-test		 AMA; no ultrasound abnormalities; normal child born in gest. week 41; weight: 3160g; length: 51cm; head circumference: 32cm; APGAR score: 9; 9; 10 {50} case 8-13
08-
O-
p11.1/
1-1		 male/
44y		 PBL n.a.
47,XY,+mar[7]/
46,XY[10]		 min(8)(:p11.1→q11.21:)[9]/
min(8)(:p11.21→q11.1:)[5]
FISH-data: RP13-116A4 at 48.3MB on sSMC		 cenM, subcenM normal male, sSMC detected due to ICSI in partnership {74} case 12
08-
O-
p11.1/
2-1		 see McCl-08-O-p11.1/2-1
08-
O-
p11/
1-1		 female/
prenatal		 AF/ PBL de novo 47,XX,+mar[50]/ 46,XX[10] interphase 83% min(8)(::p11→q11.2::)
FISH-data: RP13-116A4 at 48.3MB on sSMC
aCGH: 8p11.2-8p11 (43,192,308-48,198,00 MB)		 cenM; subcenM prenatally detected - child born, normal at a few months {0} provided from Australia
08-
O-
p10/
1-1		 male/
27y		 PBL de novo 47,XY,+mar[10]/
46,XY[12]		 ?r(8)(::p10→q12::) CGH; wcp 8, cep 8 recurrent abortions in his wife {51} case 6
{74} case 13
{109} case 8-3

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
08-
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
08-
CO-
1 		female/
1m 		PBL de novo 47,XX,+mar[~55%]/ 46,XX[~45%] mar(8)* all available centromeric probes normal at age of 7y {15} case 38587
08-
CO-
2
 		male/
prenatal 		PBL de novo 47,XY,+mar[~50%]/ 46,XY[~50%] r(8)(::p1?1.2→q1?1.2::)* M-FISH see below {43}
amniocentesis due to echogenic bowels and increased values for TT; born in week 40 without complications; normal at age of 5m
08-
CO-
3
 		female/
postnatal 		PBL n.a. 47,XX,+mar[?%]/
46,XX[?%] 		mar(8) centromeric probes, wcp8, tel 8p miscarriages {63} case 8
{74} case 14
{109} case 8-4
08-
CO-
4
 		female/
prenatal 		PBL de novo 48,XX,+marx2[4]/
47,XX,+mar[17]/
46,XX[4] 		?r(8)(::p11→q11::)* centromeric probes AMA + anxiety; normal girl born and still normal at 6y {48} case 3
08-
CO-
5
 		n.a./
postnatal 		PBL n.a. 47,XN,+mar[?%] r(8) cep normal, infertile {126} 1 case