 |
 |
- CHROMOSOME 10 -
| Cases without clinical findings |
| Cases
with clinical findings |
|
- DD = developmental delay (including intellectual disability) - growth retardation - microcephaly - DYS = dysmorphic facial features - also possible: congenital heart disease |
| case no. |
gender/ age at diagnosis |
studied material |
de novo/ inherited |
karyotype |
test methods |
clinical
symptoms |
Reference |
|
| RC/O- 10- p/ 1-1 |
- |
- |
- |
-
|
- |
- |
{}
|
|
| case no. |
gender/ age at diagnosis |
studied material |
de novo/ inherited |
karyotype |
test methods |
general clinical
symptoms |
Reference |
|
| RC/W- 10- p1?5q2?6/ 1-1 |
male/ 15y |
PBL
|
dn |
46,XY,r(10)(p1?5q2?6) dynamic mosaicism: 46,XY,r(10)/47,XY,+r(10)×2/ 45,XY,-10 |
GTG |
DD, growth retardation, DYS |
{898}
|
|
| RC/W- 10- p1?5q2?6/ 1-2 |
n.a./ postnatal |
PBL
|
?dn |
46,XY,r(10)(p1?5q2?6) |
GTG |
DYS |
{1414, 1 case - provided by Dr. I. Lurie, Maryland, USA} | |
| RC/W- 10- p1?5q2?6/ 1-3 |
male/ newborn |
PBL
|
dn |
46,XY,r(10)(p1?5q2?6) dynamic mosaicism: 46,XY,r(10)[23]/ 46,XY[2] |
GTG |
hypotonia, DYS; dispigmentation;
ambig. genitalia; heart defect; died at 1y |
{1415, case 1 - provided by Dr. I. Lurie, Maryland, USA} | |
| RC/W- 10- p15q26/ 1-1 |
female/ 15y |
PBL
|
dn |
46,XX,r(10)(p15q26) dynamic mosaicism: 16% |
GTG |
DD, microcephaly, growth retardation,
DYS |
{1, case
RC10-2; 224} |
|
| RC/W- 10- p15q26/ 1-2 |
male/ 6y |
PBL
|
dn |
46,XY,r(10)(p15q26),t(10;19)(q25;p13) dynamic mosaicism: 31% |
GTG |
DD, microcephaly, growth retardation,
DYS |
{1, case
RC10-3; 225} |
|
| RC/W- 10- p15q26/ 1-3 |
male/ ~0.8y |
PBL, fibros |
dn |
46,XY,r(10)(p15q26) dynamic mosaicism: 4-9% |
GTG |
DD, microcephaly, growth retardation,
DYS |
{1, case
RC10-4; 226} |
|
| RC/W- 10- p15q26/ 1-4 |
female/ ~0.8y |
PBL
|
dn |
46,XX,r(10)(p15q26) dynamic mosaicism: 16% |
GTG |
DD, microcephaly, growth retardation,
DYS |
{1, case
RC10-5; 227} |
|
| RC/W- 10- p15q26/ 1-5 |
male/ 9y |
PBL
|
dn |
46,XY,r(10)(p15q26) dynamic mosaicism: 6% |
GTG |
DD, microcephaly, growth retardation,
DYS |
{1, case
RC10-7; 229} |
|
| RC/W- 10- p15q26/ 1-6 |
male/ ~1y |
PBL
|
dn |
46,XY,r(10)(p15q26) dynamic mosaicism: 11%46,XY,r(10)[91]/45,XY,-10[5]/r-var[4] |
GTG |
DD, microcephaly, growth retardation,
DYS |
{1, case
RC10-8; 230} |
|
| RC/W- 10- p15q26/ 1-7 |
male/ 5y |
PBL
|
dn |
46,XY,r(10)(p15q26) |
GTG |
DD, microcephaly, growth retardation,
DYS |
{1, case
RC10-10; 232} |
|
| RC/W- 10- p15q26/ 1-8 |
male/ 32y |
PBL, fibros |
?dn |
46,XY,r(10)(p15q26) Subtelomer 10pter and 10qter absent |
GTG FISH |
DD, microcephaly, slight DYS,
cryptorchidism |
{1, case
RC10-13; 235} |
|
| RC/W- 10- p15q26/ 1-9 |
n.a./ ~4y |
PBL |
?dn |
46,XY,r(10)(p15q26) |
GTG |
DD, microcephaly, DYS | {1412; 1413 - provided by Dr. I. Lurie, Maryland, USA} | |
| RC/W- 10- p15q26/ 1-10 |
male/ newborn |
PBL |
dn |
46,XY,r(10)(p15q26) |
GTG |
DD, DYS; died at 8m | {1423 - provided by Dr. I. Lurie, Maryland, USA} | |
| RC/W- 10- p15q26/ 1-1 |
female/ ~1y |
PBL
|
dn |
46,XX,r(10)(p15q26) dynamic mosaicism: 45,XX,-10/46,XX,r(10) |
GTG |
DD, microcephaly, growth retardation,
DYS, swirly hypopigmentation over trunk and
back, multiple café-au-lait spots |
{241, case 7}
|
|
| RC/W- 10- p15q26/ 1-2 |
female/ ~1y |
PBL
|
dn |
46,XX,r(10)(p15q26) |
GTG |
DD, DYS, problems with vision |
{1420 - provided by Dr. I. Lurie, Maryland, USA} | |
| RC/W- 10- p15.3q26.1/ 1-1 |
female/ ~1.3y |
PBL
|
dn |
46,XX,r(10)(p15.3q26.1) dynamic mosaicism: 14%; 46,XY,r(10)[84]/45,XY,-10[13]/r-var[1] |
GTG |
DD, microcephaly, growth retardation,
DYS |
{1, case
RC10-6; 228} |
|
| RC/W- 10- p15.3q26.12/ 1-1 |
female/ newborn |
PBL
|
dn |
46,XX,r(10)(p15.3q26.12) acc. to aCGH in 10p 0.29Mb and in 10q 12.5Mb loss |
GTG aCGH |
DD, microcephaly, growth retardation,
DYS |
{1, case
RC10-14; 236} |
|
| RC/W- 10- p15.3q26.13/ 1-1 |
female/ 22y |
PBL
|
dn |
46,XX,r(10)(p15.3q26.13) dynamic mosaicism: 16% acc. to aCGH in 10p 1Mb and in 10q 8.8Mb loss |
GTG aCGH |
DD, microcephaly, slight DYS,
dermal pigmentation |
{1, case
RC10-16; 237, case 2, 78, case 4} |
|
| RC/W- 10- p15.3q26.13/ 1-2 |
male/ prenatal |
AF |
dn |
46,XY,r(10)(p15.3q26.13) acc. to aCGH CMA in 10p 12.59Mb and in 10q 4.22Mb loss |
GTG aCGH |
DD, microcephaly, growth retardation,
DYS; TOP |
{240}
|
|
| RC/W- 10- p15.3q26.2/ 1-1 |
male/ 14y |
PBL
|
dn |
46,XY,r(10)(p15.3q26.2) dynamic mosaicism: 17% Subtelomer 10pter present and 10qter absent acc. to aCGH in 10q 7.9Mb loss |
GTG FISH aCGH |
DD, microcephaly, growth retardation,
DYS |
{1, case
RC10-15; 237, case 1; 78, case 3; 592, case 3} |
|
| RC/W- 10- p15~13q26/ 1-1 |
female/ newborn |
PBL
|
?dn |
46,XX,r(10)(p15~13q26) dynamic mosaicism: 4% Subtelomer 10pter and 10qter absent |
GTG FISH |
DD, microcephaly, growth retardation,
DYS |
{1, case
RC10-12; 234} |
|
| RC/W- 10- p15.3q26.3/ 1-1 |
male/ 2y |
PBL
|
?dn |
46,XY,r(10)(p15.3q26.3) dynamic mosaicism: 9% |
GTG |
DD, microcephaly, growth retardation,
DYS |
{1, case
RC10-9; 231} |
|
| RC/W- 10- p15.3q26.3/ 1-2 |
male/ 2y |
PBL
|
?dn |
46,XY,r(10)(p15.3q26.3) dynamic mosaicism: 46% 45,XY,-10/46,XY/46,XY,r(10) |
GTG |
DD, microcephaly, growth retardation,
DYS |
{1, case
RC10-11; 233} |
|
| RC/W- 10- p15.3q26.3/ 2-1 |
male/ 13y |
PBL
|
?dn |
46,XY,r(10)(p15.3q26.3) dynamic mosaicism: 46,XY,r(10)[34]/45,XY,-10[12] no loss in 10pter or 10qter acc. to FISH |
GTG FISH |
DD, growth retardation, DYS,
scoliosis |
{1411 -
provided by Dr. I. Lurie, Maryland, USA} |
|
| RC/W- 10- p15.3q26.3/ 2-2 |
female/ 3y |
PBL
|
dn |
46,XY,r(10)(p15.3q26.3) dynamic mosaicism: 46,XY,r(10)[34]/45,XY,-10[12] no loss in 10pter or 10qter acc. to aCGH |
GTG aCGH |
DD, growth retardation, DYS,
hypogamma- globulinemia |
{1419 -
provided by Dr. I. Lurie, Maryland, USA} |
|
| RC/W- 10- p15.3q26.3/ 3-1 |
male/ postnatal |
PBL
|
?dn |
46,XY,r(10)(p15.3-p15.3::p15.3->q26.3) dup in 10pter and loss in 10qter acc. to FISH |
GTG FISH |
DD, DYS |
{1417, case
19 - provided by Dr. I. Lurie, Maryland,
USA} |
|
| RC/W- 10- p15.3q26.3/ 4-1 |
female/ prenatal and postnatal |
AF/ PBL
|
dn |
46,XX,r(10)(p15.3q26.3) dynamic mosaicism: 46,XX,r(10)[15]/45,XX,-10[5] acc. to aCGH in 10pter ~2.2Mb and in 10qter 2.3Mb loss |
GTG aCGH |
DD, growth retardation |
{1418 -
provided by Dr. I. Lurie, Maryland, USA} |
|
| RC/W- 10- p15.3q26.3/ 5-1 |
male/ postnatal |
AF/ PBL
|
dn |
46,XY,r(10)(p15.3->q26.3::q26.3->q26.3) dynamic mosaicism: 46,XY,r(10)[76]/46,XY[4] acc. to aCGH in 10pter ~1Mb and in 10qter 2.4Mb loss; also Dup in 10q26.3 of 0.7 Mb |
GTG aCGH |
DD, microcephaly, growth retardation, DYS |
{1422 -
provided by Dr. I. Lurie, Maryland, USA} |
|
| RC/W- 10- p15.1q26.13/ 1-1 |
female/ 3y |
PBL
|
?dn |
46,XX,r(10)(p15.1q26.13) Subtelomer 10pter and 10qter absent acc. to aCGH in 10pter 4.1Mb and in 10qter 8.1Mb loss |
GTG FISH aCGH |
DD, microcephaly, growth retardation,
DYS |
{1, case
RC10-18; 239} |
|
| RC/W- 10- p15.2q26.3/ 1-1 |
female/ ~1y |
PBL
|
?dn |
46,XX,r(10)(p15.2q26.3) dynamic mosaicism: 2% acc. to aCGH in 10p 3.68Mb and in 10q 4.26Mb loss |
GTG aCGH |
DD, microcephaly, growth retardation,
DYS |
{1, case
RC10-17; 238} |
|
| RC/W- 10- p15.1q26.11/ 1-1 |
n.a./ ~1y |
PBL
|
?dn |
46,XN,r(10)(p15.1q26.11) dynamic mosaicism: 46,XN,r(10)[90]/45,XN,-10[10] acc. to aCGH in 10pter 5Mb and in 10qter 14.1Mb loss |
GTG aCGH |
DD, growth retardation, DYS; heart
defect |
{1421 - provided by Dr. I. Lurie, Maryland, USA} | |
| RC/W- 10- p1?4q?25/ 1-1 |
female/ 9y |
PBL
|
dn |
46,XX,r(10)(p1?4q2?5) dynamic mosaicism: 53% |
GTG |
DD, microcephaly, growth retardation,
DYS |
{1, case
RC10-1; 223} |
|
| RC/W- 10- p12.3q26.3/ 1-1 |
male/ newborn |
PBL
|
dn |
46,XX,r(10)(p12.3q26.3) |
GTG |
DD, microcephaly, growth retardation,
DYS; ambig. genitalia; died at day 12 |
{1416 -
provided by Dr. I. Lurie, Maryland, USA} |
|