ChromosOmics - Database

Icon by Leon Liehr                   

                                                  -  CHROMOSOME #16 -                                                 
NORMAL
Specific PATIENTINFORMATION for sSMC(16) - part 1
Specific PATIENTINFORMATION for sSMC(16) - part 2

 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(16)mat UPD(16)pat UPD(16)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
16-
O-
p11.2/
1-1 		see 16-Uu-1
16-
O-
p11.2/
1-2		 female/
adult		 PBL
(EKF-
cellbank)		 n.a. 47,XX,+mar[33%]/
46,XX[67%]		 min(16)(:p11.2→q11.1:) cenM; subcenM normal woman, infertile {0} provided by Reprogenet, Spain
16-
O-
p11.2/
1-3		 male/
prenatal		 AF, PBL; bucal mucosa
 de novo
 47,XY,+mar[70%]/
46,XX[30%]
in PBL: 64%; in bucal mucosa: 45%
 min(16)(:p11.2→q1?1.1:)
aCGH: 31.7-36.0Mb
 aCGH, FISH
 child born {76}
16-
O-
p11.2/
1-4		 female/
37y		 PBL
 n.a.
 47,XX,+mar[21]/
46,XX[9]
 min(16)(:p11.2→q11.1:)
 cenM, subcenM
 normal woman, infertile {0} provided from Leipzig, Germany
***

16-
O-
p11.2/
2-1


 		female/
prenatal		 AF, skin; PBL, placenta de novo AF: 47,XX,+r[8]/
46,XX[9]
skin, 50% of sSMC; PBL: 3-5% of sSMC
in placenta 47,XX,+16		 r(16)(:p11.2→q12.2:)
FISH-data: RP11-360L15 (28.86 MB) on sSMC		 cenM,
subcenM; UPD-test		 see below {0} provided by Genzyme, USA
sSMC detected due to advanced maternal age; Slowing of growth in the last weeks of pregnancy and labor was induced at 37.5 weeks. Weight was 2.55 kg; length 46.5 cm; scars at two sites on her left thigh from the fetal skin biopsy; deep sacral dimple, ultrasound of underlying structures was normal. Neonatal course also was normal. At 7 months of age she sits with assistance and is close to sitting alone. The remainder of developmental assessment is also normal for age. Normal at age of 4.5 y.
16-
O-
p11.2/
3-1		 female/
prenatal		 AF n.a. 47,XX,+mar[22]/
46,XX[10]		 mar(16)(:p11.2→q1?1.2:)
aCGH: 31.68-34.85 MB		 aCGH sSMC detected due to hygroma colli - normal child born {62} case 16
16-
O-
p11.2/
3-2		 female/
prenatal		 AF mat 47,XX,+mar[50%]/
46,XX[50%]		 min(16)(:p11.2→q11.2:) cenM, subcenM mother normal {0} provided from Serbia
***
16-O-
p11.2/
4-1		 male/
prenatal		 AF mat 47,XY,+mar[60%]/
46,XY[40%]		 mar(16)(:p11.2→q12.1:)
aCGH(hg19): 28,825,250–46,356,412		 aCGH AMA?; mother normal {71} case P7
16-
O-
p11.2/
5-1		 male/
44y		 PBL n.a. 47,XY,+mar[50%]/
46,XY[50%]		 r(16)(:p11.2→q12.1:) cenM, subcenM transsexuality {0} provided by Dr. Hentze, Heidelberg, Germany
16-
O-
p11.2
~11.1/
1-1		 male/
prenatal		 AF;
PBL;
Chord fibroblasts		 de novo 47,XY,+mar[~50%]/
46,XY[~50%]
(mar in 75% of PBL and 30% of studied fibroblasts; repeat in blood: 64%)		 dic r(16)(wcp16+,
cos11+, cos13+,c3296+, D16z2++,D16Z3+)
r(16)(::p11.2~11.1→q11.2:
:q11.2→p11.1::)		 specific FISH probes: wcp16; and mentioned probes AMA; no ultrasound abnormalities; child born without clinical symptom and healthy at 10m and 2y of age. {5}
{19} case 4
16-
O-
p11.1/
1-1		 male/
prenatal		 AF de novo 47,XY,+mar[16]/
46,XY[13]		 min(16)(:p11.1→q11.2:) cenM;
subcenM; UPD-test		 AMA; no ultrasound abnormalities; child born without clinical symptom {1} case 24
16-
O-
p11.1/
1-2		 male, twins/
prenatal		 AF de novo mosaic - e.g. in one twin: 48,XY,+2mar[9]/
47,XY,+mar[14]/
46,XY[14]		 min(16)(:p11.1→q11.2:) cenM; subcenM; UPD-test
 microsatellites tested for UPD: D16S2616, D16S769, D16S2624, D16S0539, D16S2621		 AMA, twin pregnancy, both twins with marker. Both children normal at birth and at 4 months {0} provided by Dr. Heilbronner, Stuttgart, Germany
16-
O-
p11.1/
1-3		 see 16-O-p11.1/4-4
16-
O-
p11.1/
1-4		 female/
35y		 PBL n.a. 47,XX,+mar[7]/
46,XX[3]		 min(16)(:p11.1→q11.2:)
in aCGH no euchromatin deteceted		 cenM;
subcenM
aCGH		 normal female, prior to ICSI {68} case 16-1
16-
O-
p11.1/
1-5		 n.a./
prenatal		 AF n.a. 47,+mar[87]/
46[13]		 min(16)(:p11.1→q11.2:) cenM;
subcenM		 healthy child born {0}
16-
O-
p11.1/
1-6		 female/
prenatal		 AF n.a. 47,XX,+mar[100%] min(16)(:p11.1→q1?1.2:)
in aCGH practically no euchromatin deteceted: 34.47-35,01 MB		 aCGH normal {62} case 15
16-
O-
p11.1/
1-7		 male/
4y		 PBL mat 47,XY,+mar[10]/
46,XY[5]		 min(16)(:p11.1→q11.2:)
in aCGH practically no euchromatin deteceted: 34.2-47,3 MB [hg19]		 subcenM
aCGH		 speech delay; normal mother {0} provided by Dr.Martin, Homburg, Germany
16-
O-
p11.1/
1-8		 female/
prenatal		 AF de novo 47,XX,+mar[75%]/
46,XX[25%]		 min(16)(:p11.1→q11.2:) subcenM
aCGH		 AMA normal child born {0}
16-
O-
p11.1/
1-9		 female/
adult		 PBL n.a. 47,XX,+mar[20%]/
46,XX[80%]		 min(16)(:p11.1→q11.2:) cenM; subcenM normal but repeated abortions {0}
16-
O-
p11.1/
2-1		 female/
adult		 PBL n.a. 47,XX+mar[73%]/
46,XX[27%]		 r(16)(:p?11.1→q?12.1:)* radioactive ISH; satellite II probe for chr.16 Marker present as well in one healthy daughter and one mentally and physically retarded and son. {3} mother is mentioned for case 3
16-
O-
p11.1/
2-2		 female/
29y
 PBL n.a. 47,XX+mar[12]/
46,XX[10]		 r(16)(:p?11.1→q?12.1:)* subcenM
RP11-408D2-,D16Z2+,
D16Z3+,RP11-474B12+		 normal, infertile
 {0} provided from Recklinghausen, Germany
16-
O-
p11.1/
3-1		 male/
prenatal		 AF de novo 47,XY,+mar[20%]/
46,XY[80%]		 dic(16;16)(:p11.1→q11.2:
:q11.2→p11.1:)		 cenM; subcenM; UPD-test Marker detected prenatally; normal child was born {0} provided by Dr. Pao-Lin,
Taiwan
***
16-
O-
p11.1/
4-1		 male/
prenatal		 AF de novo 47,XY,+mar[25]/
46,XY[28]		 min(16)(:p11.1→q12.1:)
FISH-data: RP11-474B12 (45.87-46.02) on sSMC		 M-FISH; subcenM; UPD-test
 microsatellites tested for UPD 16S520; D16S3068; D16S423		 AMA; normal child was born birth weight 2970g; length 52cm; walking with 10.5months; minor aberrations: incomplete simian crease at one hand and sacral porus {0} provided by Drs. Prager and Junge,
Dresden, Germany
16-
O-
p11.1/
4-2		 male/
adult		 PBL
(EKF-
cellbank)		 n.a. 47,XY,+r[?%] min(16)(:p11.1→q12.1:) cenM; subcenM Marker detected in normal male, cytogenetics due to abnormal baby with del(2) {27} case 9; {32}
16-
O-
p11.1/
4-3		 male/
prenatal		 AF/ CH n.a. chorion: 47,XY,+mar[2]/46,XY[1], amnion: mar in 3/15 metaphases min(16)(:p11.1→q12.1:)
array-CGH - euchromatic size 366.3 kb in 16q; RP11-627O2 (45.38-45.60MB), RP11-825K2 (45.36-45.90MB), RP11-719K16 (45.47-45.89MB)		 cenM; subcenM; aCGH AMA; normal child at 7 months {0} provided by abCorp Dynacare Laboratories, USA
***
16-
O-
p11.1/
4-4		 male/
prenatal		 AF de novo 47,XY,+mar[100%] min(16)(:p11.21→q12.1:)
FISH-data: RP11-474B12 (45.87-46.02) on sSMC
array: 31.43-45.76 MB		 centromeric probes; subcenM; array-CGH; UPD-test
microsatellites tested for UPD: D16S2616, D16S748, D16S403, D16S769, D16S402		 AMA. At birth weight 4,055 gr. length 54 cm and OFC 37.5 cm. At 1 y phenotypically and neurologically normal {0}
{43}
16-
O-
p11.1/
4-5		 n.a./
prenatal		 AF maternal
(mother 50%)		 47,XN,+mar[20%]/
46,XN[80%]		 min(16)(:p11.1→q12.1:)
in aCGH no euchromatin deteceted		 cenM, subcenM twin pregnancy; mother normal; sSMC only in one twin {0} provided by Dr. Nurit Israel
16-
O-
p11.1/
4-6		 female/
adult		 PBL n.a. 47,XX,+mar[30-40%]/
46,XX[60-70%]		 min(16)(:p11.1→q12.1:) cenM; subcenM; UPD-test AMA, normal baby born {0} provided by Dr. Magdalini Lagou, Greece
16-
O-
p11.1/
4-7		 male/
44y		 PBL n.a. 47,XY,+mar[9]/
46,XY[21]		 r(16)(::p11.1→q12.1::) cenM; subcenM normal male, infertiity {68} case 16-2
16-
O-
p11.1/
4-8		 female/
adult
 PBL n.a. 47,XX,+mar[6]/
46,XX[24]		 min(16)(:p11.1→q12.1:) cenM; subcenM normal male, infertiity {0} provided from Spain
16-
O-
p11.1/
5-1		 female/
37y		 PBL
cell line at ECACC DD0375		 de novo 47,XX,+mar[28]/
46,XX[22]		 min(16)(:p11.1→q11.1:) all available centromeric probes; cenM, subcenM, midi; UPD-test clinically normal; son with same marker; mar discovered in amniocentesis due to AMA; baby normal at 4m {2} case 17
{9} case 23
{25} case 7
16-
O-
p11.1/
5-2		 female/
adult		 PBL n.a. 47,XX,+mar[80%]/
46,XX[20%]		 min(16)(:p11.1→q11.1:) cenM; subcenM clinically normal; daughter with same marker; mar in same percentage; discovered in amniocentesis due to AMA; no info available on daughter {0} provided by Dr. Hansmann, Halle, Germany
16-
O-
p11.1/
5-3		 female/
prenatal		 AF paternal (mar in 4-10% of PBL) 47,XX,+mar[90-97%]/ 46,XX[10-3%] min(16)(:p11.1→q11.1:)* M-FISH; all cep, 16q11.2 probe; CGH
AMA; father normal		 {50} case 2
16-
O-
p11.1/
5-4		 female/
31y		 PBL
(EKF-
cellbank)		 n.a. 47,XX,+mar[100%] min(16)(:p11.1→q11.1:) cenM; subcenM no abnormal phenotype; 6 years infertility, 3 x inseminations failed {0} provided by Reprogenet, Spain
16-
O-
p11.1/
6-1		 male/
prenatal		 AF de novo 47,XY,+mar[?%]/
46,XY[?%]		 r(16)(:p11.1→q11.1:) subcenM; UPD-test AMA; healthy child born {0} provided by Dr. Virginia Palente, USA
16-
O-
p11.1/
6-2		 female/
prenatal		 AF de novo 47,XX,+mar[100%] r(16)(:p11.1→q11.1:) pericentric BAC probe set amniocentesis due to ?; child normal {65} case 14
16-
O-
p11.1/
7-1		 male/
adult		 PBL
(EKF-
cellbank)		 n.a. 47,XY,+mar[8]/
46,XY[42]		 min(16)(:p11.1→q11.1~11.2:) cenM;
subcenM
normal male, infertile		 {0} provided by Reprogenet, Spain
***
16-
O-
p10/
1-1		 female/
25y		 PBL n.a. 47,XX,+mar[15]/
46,XX[3]		 min(16)(:p10→q12.1:)[80%]/
min(16)(q12.1→p10:
:p10→q12.1:)[20%]
FISH-data: RP11-474B12 (45.87-46.02) on sSMC		 cenM;
subcenM		 normal but daughter with sSMC and Rett syndrome (mol. confirmed) {0} provided by Drs. Prager and Junge,
Dresden, Germany

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
16-
O-
IMB-
p11.2/
1-1 +
review 		female and
 male/
adult 		PBL familial 46,dup(16)(p11.2q11) locus specific probes normal adults {19} - other papers reviewed
16-
O-
IMB-
q12.1/
1-1 		female and
male/
adult 		PBL familial 46,dup(16)(q11.2q12.1) locus specific probes normal adults {38} family 2

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
16-
CO-
1		 female/
prenatal		 AF
PBL		 de novo 47,XX+mar[20%]/
46,XX[80%]
(postnatal mar in 16% of PBL)		 ish dic(16) (D16Z2++,wcp16+) cep for 1, 6, 9, 1/5/19, 13/21, 14/22, 15, 16; wcp 16 AMA; no ultrasound abnormalities; child born without clinical symptom and healthy at 9m of age. {6}
16-
CO-
2		 male/
prenatal		 AF maternal
(no info on mosaic status)		 47,XY,+mar[21]/
46,XY[14]		 ish mar(16)(D16Z1+) FISH with all available centromeric probes Amniocentesis due to abnormal serum biochemistry; normal at 14m; mother clinically normal {8} case 16
16-
CO-
3		 female/
24y		 PBL/ fibroblasts paternal 47,XX,+mar[1761]/
46,XX[239]
(in 915/1000 fibroblasts)		 ish mar(16)(D16Z1+) FISH with all available centromeric probes normal phenotype - mar present in sister as well {11} case 1
16-
CO-
4		 male/
42y		 PBL de novo? 47,XY,+mar[60]/
46,XY[40]		 r(16) SKY; cep 16 repeated abortions (?) {16} case 11
{42} case 93
{68} case 16-3
16-
CO-
5		 female/
18m		 PBL de novo 47,XX,+mar[?100%] ish der(16)(wcp16+,cos97+,cos33+,
cos11+,D16Z2+,D16Z3-), cosmids in 16p11.2		 wcp16, cos97, cos33, cos11, D16Z2, D16Z3 normal phenotype, apart from being an extra digit on left hand, extra digit attached to left hand by a piece of skin with no bone but a small nail {0} case provided by UNIQUE
16-
CO-
6		 n.a./
prenatal		 AF de novo 47,+mar[43%]/
46,XY[57]		 mar(16)
(wcp+, cep+)		 wcp; cep 16 normal child born and normal at 11 months {52}
{67} case 17
16-
CO-
7		 female/
33y		 PBL n.a. 47,XX,+r[100%] r(16) SKY normal woman, repeated abortions {61} case F047204
{68} case 16-4
16-
CO-
8		 male/
prenatal		 AF de novo 47,XY,+mar[100%] mar(16)
(cep+, wcp-)
in aCGH no euchromatin		 wcp, cep, aCGH normal child born {0}
16-
CO-
9		 n.a./
adult		 PBL n.a. 47,XN,+mar[?%] r(16) cep
 normal, infertile
 {78} 1 case