 |
 |
- CHROMOSOME 5 -
| Cases without clinical findings |
| Cases
with clinical findings |
|
- DD = developmental delay (including intellectual disability) - growth retardation - microcephaly - DYS = dysmorphic facial features - also possible: hypotonia, congenital cardiac anomalies Cri du Chat syndrome in case deletion in 5p: includes corresponding critical region in 5p12 - hg19: 10,971,948-11,904,558 Mb |
| case no. |
gender/ age at diagnosis |
studied material |
de novo/ inherited |
karyotype |
test methods |
clinical
symptoms |
Reference |
|
| RC/O- 05- p15q35/ 1-1 |
female/ prenatal |
AF
|
?dn |
46,XX,r(5)(p15q35) |
GTG | normal phenotype |
{907} |
|
| RC/O- 05- p15.3q35/ 1-1 |
female/ 5y |
PBL
|
dn |
46,XX,r(5)(p15.3q35) |
GTG |
DD, microcephaly, growth retardation,
DYS; intelligence
normal |
{1309 and
1310 - provided by
Dr. I. Lurie, Maryland, USA} |
|
| RC/O- 05- p15.3q35/ 1-1 |
male/ 7y |
PBL
|
dn |
46,XY,r(5)(p15.33q35.3) dynamic mosaicism: 46,XY,r(5)[34]/47,XY,r(5)x2)[3]/46,XY[10] subtelomeres present |
GTG FISH |
DD, microcephaly, dispigmentation, seizures; intelligence normal |
{1311 -
provided by Dr. I. Lurie, Maryland, USA} |
|
| case no. |
gender/ age at diagnosis |
studied material |
de novo/ inherited |
karyotype |
test methods |
general clinical
symptoms |
Reference |
|
| RC/W- 05- p1?5q3?5/ 1-1 |
female/ child |
PBL
|
dn |
46,XX,r(5)(p1?5q3?5) |
solid staining |
DD,
microcephaly, growth retardation, DYS Cri du Chat syndrome |
{1, case
RC5-1; 87} |
|
| RC/W- 05- p1?5q3?5/ 1-2 |
male/ 3y |
PBL
|
dn |
46,XY,r(5)(p1?5q3?5) |
GTG |
DD,
microcephaly, growth retardation, DYS Cri du Chat syndrome, no testis |
{1, case
RC5-14; 97, case 1} |
|
| RC/W- 05- p1?5q3?5/ 1-3 |
female/ 1.5y |
PBL
|
dn |
46,XX,r(5)(p1?5q3?5) |
GTG |
DD,
microcephaly, growth retardation, DYS Cri du Chat syndrome |
{1, case
RC5-15; 97, case 2} |
|
| RC/W- 05- p1?5q3?5/ 1-4 |
female/ ~2.3y |
PBL
|
?dn |
46,XX,r(5)(p1?5q3?5) |
GTG |
DD,
microcephaly, growth retardation, DYS Cri du Chat syndrome |
{1, case
RC5-16; 97, case 3} |
|
| RC/W- 05- p1?5q3?5/ 1-5 |
female/ 0.5y |
PBL
|
dn |
46,XX,r(5)(p1?5q3?5) dynamic mosaicism: mos 46,XX,r(5)(p1?5q3?5)/46,XX |
GTG |
DD,
microcephaly, growth retardation, DYS Cri du Chat syndrome |
{1, case
RC5-17; 97, case 4} |
|
| RC/W- 05- p1?5q3?5/ 1-6 |
male/ ?y |
PBL
|
?dn |
46,XY,r(5)(p1?5q3?5) |
GTG |
DD,
microcephaly, growth retardation, DYS Cri du Chat syndrome |
{139, 1 case}
literature not accessible |
|
| RC/W- 05- p1?5q3?5/ 1-7 |
n.a./ ? |
PBL
|
?dn |
46,XN,r(5)(p1?5q3?5) dynamic mosaicism |
GTG |
DD,
microcephaly, growth retardation, DYS Cri du Chat syndrome |
{139, 1 case}
literature not accessible |
|
| RC/W- 05- p1?5q3?5/ 1-8 |
n.a./ child |
PBL
|
?dn |
46,XN,r(5)(p1?5q3?5) |
GTG |
DD,
microcephaly, growth retardation, DYS Cri du Chat syndrome |
{222, 1 case} |
|
| RC/W- 05- p1?5q3?5/ 1-9 |
male/ 4y |
PBL
|
?dn |
46,XY,r(5)(p1?5q3?5) |
GTG |
DD,
microcephaly, growth retardation, DYS Cri du Chat syndrome |
{574 - provided
by Dr. I.
Lurie, Maryland, USA} |
|
| RC/W- 05- p1?5q3?5/ 1-10 |
male/ ~1.3y |
PBL
|
?dn |
46,XY,r(5)(p1?5q3?5) |
GTG |
DD,
microcephaly, growth retardation, DYS Cri du Chat syndrome |
{583 -
provided by Dr. I. Lurie, Maryland, USA} |
|
| RC/W- 05- p1?5q3?5/ 1-11 |
female/ 15y |
PBL
|
dn |
46,XX,r(5)(p1?5q3?5) |
GTG |
DD,
growth retardation, DYS |
{1299, case
2 - provided
by Dr. I.
Lurie, Maryland, USA} |
|
| RC/W- 05- p1?5q3?5/ 1-12 |
male/ 4y |
PBL
|
?dn |
46,XY,r(5)(p1?5q3?5) |
GTG |
DD,
microcephaly, growth retardation, DYS |
{1305 - provided
by Dr. I.
Lurie, Maryland, USA} |
|
| RC/W- 05- p1?5q3?5/ 1-13 |
n.a./ postnatal |
PBL
|
?dn |
46,XN,r(5)(p1?5q3?5) |
GTG |
?DD,
DYS |
{1314, 1
case - provided
by Dr. I.
Lurie, Maryland, USA} |
|
| RC/W- 05- p15q34/ 1-1 |
male/ 18y |
PBL
|
?dn |
46,XY,r(5)(p15q34) |
GTG |
DD,
microcephaly, growth retardation, DYS cysteinuria |
{1300 - provided
by Dr. I.
Lurie, Maryland, USA} |
|
| RC/W- 05- p15q35/ 1-1 |
male/ 4m |
PBL
|
dn |
46,XY,r(5)(p15q35) dynamic mosaicism |
GTG |
DD,
microcephaly, growth retardation, DYS Cri du Chat syndrome |
{1, case
RC5-3; 89} |
|
| RC/W- 05- p15q35/ 1-2 |
male/ child |
PBL
|
dn |
46,XY,r(5)(p15q35) dynamic mosaicism |
GTG |
DD,
microcephaly, growth retardation, DYS Cri du Chat syndrome |
{1, case
RC5-4; 90, case 1} |
|
| RC/W- 05- p15q35/ 1-3 |
male/ 7y |
PBL
|
dn |
46,XY,r(5)(p15q35) dynamic mosaicism |
GTG |
DD,
microcephaly, growth retardation, DYS Cri du Chat syndrome |
{1, case
RC5-6; 91} |
|
| RC/W- 05- p15q35/ 1-4 |
female/ 1.5y |
PBL
|
dn |
46,XX,r(5)(p15q35) dynamic mosaicism |
solid staining |
DD,
microcephaly, growth retardation, DYS Cri du Chat syndrome |
{1, case
RC5-2; 88; 576, case AH} |
|
| RC/W- 05- p15.3q35/ 1-1 |
female/ ~2y |
PBL
|
dn |
46,XX,r(5)(p15.3q35) dynamic mosaicism: 46,XX,r(5)[88]/47,XX,r(5)x2[7]/45,XX,-5[3]/46,XX,var(5)[2] |
GTG | DD, microcephaly, growth retardation, DYS |
{1302 - provided by
Dr. I. Lurie, Maryland, USA} |
|
| RC/W- 05- p15.3q35/ 1-2 |
male/ ~21y |
PBL
|
dn |
46,XY,r(5)(p15.3q35) |
GTG FISH |
DD, microcephaly, growth retardation,
DYS, seizures Cri du Chat syndrome |
{1307 - provided by
Dr. I. Lurie, Maryland, USA} |
|
| RC/W- 05- p15.3q35/ 1-3 |
male/ 10y |
PBL
|
dn |
46,XY,r(5)(p15.3q35) dynamic mosaicism: 46,XX,r(5)[17]/45,XX,-5[3] subtel 5pter lost, 5qter present |
GTG FISH |
DD |
{1312 - provided by
Dr. I. Lurie, Maryland, USA} |
|
| RC/W- 05- p15.3q35.1/ 1-1 |
male/ 12y |
PBL
|
?dn |
46,XY,r(5)(p15.3q35.1) dynamic mosaicism: 46,XX,r(5)[32]/45,XX,-5[3]/46,XY[18] |
GTG |
DD, growth retardation, DYS, seizures |
{1316, case
8 - provided by
Dr. I. Lurie, Maryland, USA} |
|
| RC/W- 05- p15.3q35.3/ 1-1 |
female/ 3y |
PBL
|
dn |
46,XX,r(5)(p15.3q35.3) dynamic mosaicism |
GTG | DD, microcephaly, growth retardation, DYS |
{1, case
RC5-11; 94, case 1; 1301 provided by Dr. I. Lurie, Maryland, USA} |
|
| RC/W- 05- p15.3q35.3/ 1-2 |
male/ prenatal and protnatal |
PBL
|
?dn |
46,XY,r(5)(p15.3q35.3) dynamic mosaicism: 46,XY,r(5)[41]/47,XY,r(5)x2[1]/45,XY,-5[2]/46,XY[1] subtel 5pter and CdC probe deleted |
GTG FISH |
DD,
microcephaly, growth retardation, DYS Cri du Chat syndrome |
{595, case
35; 1306 - provided by Dr. I. Lurie,
Maryland, USA} |
|
| RC/W- 05- p15.3q35.3/ 1-3 |
male/ |
PBL |
?dn |
46,XY,r(5)(p15.3q35.3) dynamic mosaicism: 46,XY,r(5)[82]/46,XY[18] |
GTG FISH |
DD, DYS, microcephaly, growth retardation | {1288, 1
case, 1319, case 2 - provided by Dr. I.
Lurie, Maryland, USA} 1 case |
|
| RC/W- 05- p15.3q35.3/ 1-4 |
male/ |
PBL |
?dn |
46,XY,r(5)(p15.3q35.3) |
GTG FISH |
growth retardation, dispigmentation | {1317, case
2003B 10B - provided by Dr. I. Lurie,
Maryland, USA} |
|
| RC/W- 05- p15.33q35.3/ 1-1a and 1-1b |
2 females/ mother 30y, daughter 4y |
PBL
|
maternal |
46,XX,r(5)(p15.33q35.3) dynamic mosaicism |
GTG |
DD, microcephaly, growth retardation,
DYS |
{1, case
RC5-8; 93, cases 1 and 2} |
|
| RC/W- 05- p15.33q35.3/ 1-2 |
female/ 4m |
PBL
|
dn |
46,XX,r(5)(p15.33q35.3) dynamic mosaicism |
GTG |
DD, microcephaly, growth retardation, DYS |
{1, case
RC5-10; 93, case 3} |
|
| RC/W- 05- p15.33q35.3/ 1-3 |
n.a./ postnatal |
PBL
|
dn |
46,XX,r(5)(p15.33q35.3) acc. to aCGH in 5q: 0.6Mb loss |
GTG aCGH |
no details provided |
{1099, case 2} |
|
| RC/W- 05- p15.33q35.3/ 1-4 |
male/ 17y |
PBL
|
?dn |
46,XY,r(5)(p15.33q35.3) dynamic mosaicism: 46,XY,r(5)[25]/47,XY,r(5)x2)[2]/45,XY,-5[2]/46,XY[2] acc. to FISH only telomeres lost and subtelomeres present |
GTG FISH |
DD, microcephaly, growth retardation, DYS |
{1304 -
provided by Dr. I. Lurie, Maryland, USA} |
|
| RC/W- 05- p15.2q35.2/ 1-1 |
male/ 6y |
PBL
|
dn |
46,XY,r(5)(p15.2q35.2) dynamic mosaicism |
GTG |
DD,
microcephaly, growth retardation, DYS Cri du Chat syndrome |
{1, case
RC5-5; 90, case 2} |
|
| RC/W- 05- p15.2q35.2/ 2-1 |
female/ newborn |
PBL
|
dn |
46,XX,r(5)(p15.3->p15.2::p15.2->q35.2) dynamic mosaicism: 46,XX,r(5)[90]/45,XX,-5[10] |
GTG FISH |
DD, microcephaly, growth retardation, DYS, heart defect |
{1478-
provided by Dr. I. Lurie, Maryland, USA} |
|
| RC/W- 05- p1?4q3?3/ 1-1 |
male/ ~3m |
PBL
|
dn |
46,XX,r(5)(p1?4q3?3) dynamic mosaicism |
GTG |
DD,
microcephaly, growth retardation, DYS Cri du Chat syndrome |
{1, case
RC5-7; 92} |
|
| RC/W- 05- p14q35/ 1-1 |
female/ 3y |
PBL
|
dn |
46,XX,r(5)(p14q35) dynamic mosaicism: 46,XX,r(5)(p14q35)[80]/ 45,XX,-5[8]/47,XX,r(5),+r(5)[3] |
GTG |
DD,
microcephaly, growth retardation, DYS, oculoauriculo- vertebral spectrum Cri du Chat syndrome |
{1, case
RC5-12; 95} |
|
| RC/W- 05- p14q35/ 1-2 |
male/ 16y |
PBL
|
?dn |
46,XY,r(5)(p14q35) |
GTG |
DD, DYS, Cri du Chat syndrome |
{1303, case 4 - provided by Dr. I. Lurie, Maryland, USA} | |
| RC/W- 05- p14.3q35.3/ 1-1 |
female/ 17y |
PBL
|
?dn |
46,XX,r(5)(p14.3q35.3) acc. to aCGH in 5p: ~27 Mb and in 5q: 2.44 Mb loss |
GTG aCGH |
DD,
microcephaly, growth retardation, DYS, refractory
cytopenia with multilineage dysplasia Cri du Chat syndrome |
{1, case
RC5-18; 98} |
|
| RC/W- 05- p14.3q35.3/ 1-2 |
n.a./ prenatal |
AF |
dn |
46,XN,r(5)(p14.3q35.3) acc. to aCGH in 5p: 18.6 Mb and in 5q no loss |
GTG aCGH |
growth
retardation, DYS |
{1308, case 1 - provided by Dr. I. Lurie, Maryland, USA} | |
| RC/W- 05- p14.3q35.3/ 1-2 |
female/ newborn |
PBL |
?dn |
46,XX,r(5)(p14.3q35.3) acc. to aCGH in 5pter 20.5 Mb and 0.7Mb in 5qter loss |
GTG aCGH |
DD, microcephaly, growth
retardation, DYS |
{1318, case 55 - provided by Dr. I. Lurie, Maryland, USA} | |
| RC/W- 05- p14.1q35.3/ 1-1 |
female/ prenatal |
AF |
dn |
46,XX,r(5)(p14.1q35.3) acc. to aCGH in 5p: 17.5Mb and in 5q 2.9Mb loss |
GTG aCGH |
growth
retardation, DYS |
{1313, case 4 - provided by Dr. I. Lurie, Maryland, USA} | |
| RC/W- 05- p14.1q35.3/ 2-1 |
n.a./ prenatal |
AF |
?dn |
46,XN,r(5)(p14.1q35.3) acc. to aCGH in 5pter 25.7Mb and no loss in 5qter |
GTG aCGH |
growth
retardation, TOP |
{1320, case 2 - provided by Dr. I. Lurie, Maryland, USA} | |
| RC/W- 05- p13.2q35.3/ 1-1 |
male/ child |
PBL
|
dn |
46,XY,r(5)(p13.2q35.3) dynamic mosaicism: 46,XY,r(5)(p13.2q35.3)[183]/45,XY,-5[30] |
GTG FISH |
DD,
microcephaly, growth retardation, DYS, cardiac
abnormalities, hypoplasia of both
kidneys Cri du Chat syndrome |
{1, case
RC5-13; 96} |
|
| RC/W- 05- p13.2q35.3/ 1-2 |
male/ 3y |
PBL
|
dn |
47,XY,r(5)(p13.2q35.3), +inv dup(15)(q11.1) acc. to aCGH in 5pter 34.7Mb and no loss in 5qter |
GTG FISH aCGH |
DD,
microcephaly, growth retardation, DYS, cardiac
abnormalities, hypotonia Cri du Chat syndrome |
{1315, case
1 - provided by
Dr. I. Lurie, Maryland, USA} |
|