 |
 |
- CHROMOSOME 4 -
| Cases without clinical findings |
| Cases
with clinical findings |
|
- DD = developmental delay (including intellectual disability) - growth retardation - microcephaly - DYS = dysmorphic facial features - also possible: cleft lip and/or cleft palate - Wolf-Hirschhorn syndrome (WHS) in case deletion in 4p possible: includes corresponding critical region in 4p16.3 - hg19: 1,873,121-1,983,919 Mb (OMIM 194190) - theoretically to be expected: + 4q35 microdeletion syndrome in case of terminal deletion (PMC 10399047) |
| case no. |
gender/ age at diagnosis |
studied material |
de novo/ inherited |
karyotype |
test methods |
clinical
symptoms |
Reference |
|
| RC/O- 04- p1?6q3?5/ 1-1 |
male/ 64y |
PBL
|
?dn |
46,XY,r(4)(p1?6q3?5) |
GTG |
male with borderline normal
intelligence |
{424}
|
|
| RC/O- 04- p1?6q3?5/ 1-2 |
female/ 2.5y |
PBL
|
?dn |
46,XX,r(4)(p1?6q3?5) Telomeric repeats present |
GTG FISH |
growth retardation, mild DYS,
hypopigmentation, otherwise normal |
{437}
|
|
| RC/O- 04- p1?6q3?5/ 1-3 |
female/ 1.5y |
PBL
|
dn |
46,XX,r(4)(p1?6q3?5) dynamic mosaicism: 46,XX,r(4)/46,XX,dr(4)/45,XX,-4 |
GTG |
severe growth retardation,
hypertelorism, otherwise normal |
{1262 - provided by Dr. I. Lurie, Maryland, USA} | |
| RC/O- 04- p1?6q3?5/ 1-4 |
male/ 6y |
PBL
|
dn |
46,XX,r(4)(p1?6q3?5) WHS region lost |
GTG FISH |
slightly reduced intelligence, growth
retardation, otherwise
normal |
{1265 - provided by Dr. I. Lurie, Maryland, USA} | |
| RC/O- 04- p1?6q3?5/ 1-4 |
male/ 4y |
PBL Fibros |
?dn |
46,XY,r(4)(p1?6q3?5) dynamic mosaicism: PBL: 46,XY,r(4),der(17)t(4;17)(q13;q25)[115]/45,XY,-4,der(17)t(4;17)(q13;q25)[9]/47,XY,r(4)x2,der(17)t(4;17)(q13;q25)[5] fibros: 46,XY,r(4),der(17)t(4;17)(q13;q25)[6]/45,XY,-4,der(17)t(4;17)(q13;q25)[1]/45,XY,der(20)(20pter->20q11: :4q13->4q37::20q11->20qter)der(17)t(4;17)(q13;q25)[5] |
GTG FISH |
growth retardation, DYS, otherwise
normal |
{1263, 1287, case 2; both provided by Dr. I. Lurie, Maryland, USA} | |
| RC/O- 04- p16q35/ 1-1 |
male/ 8y |
PBL
|
dn |
46,XY,r(4)(p16q35) dynamic mosaicism: 46,XY,r(4)[72]/46,XY,dic r(4)[16]/ 45,XY,-4[3] 9% cells unstable derivatives |
GTG |
clinodactyly | {1; 60}
|
|
| RC/O- 04- p16.3q34/ 1-1 |
male/ 16y |
PBL
|
dn |
46,XX,r(4)(p16.3q34) Subtelomere 4pter present and 4qter absent |
GTG FISH |
growth retardation,
microcephaly, DYS; otherwise normal |
{1285 - provided by Dr. I. Lurie, Maryland, USA} | |
| RC/O- 04- p16.3q35.2/ 1-1 |
female/ ~1y |
PBL
|
dn |
46,XX,r(4)(p16.3q35.2) Subtelomere 4pter absent and 4qter present WHS CR+ |
GTG FISH aCGH |
growth retardation | {1; 73}
|
|
| RC/O- 04- p16.3q35.2/ 1-2 |
male/ ~1y |
PBL
|
dn |
46,XY,r(4)(p16.3q35.2) dynamic mosaicism: 22-36% Subtelomere 4pter absent and 4qter present WHS CR+ |
GTG FISH |
clinodactyly | {1; 76}
|
|
| RC/O- 04- p16.3q35.2/ 2-1a and 2-1b |
female/ |
PBL |
most likely gonadal mosaic in
parent |
46,XX,r(4)(p16.3q35.2) dynamic
mosaicism |
GTG FISH |
growth retardation, otherwise
normal |
{1267 - provided by Dr. I. Lurie, Maryland, USA} | |
| RC/O- 04- p16.3q35.2/ 3-1 |
male/ |
PBL |
?dn |
46,XY,r(4)(p16.3q35.2) dynamic
mosaicism: |
GTG FISH |
growth retardation, DD |
{1272 - provided by Dr. I. Lurie, Maryland, USA} | |
| RC/O- 04- p16.3q35.2/ 3-2 |
female/ |
PBL |
?dn |
46,XX,r(4)(p16.3q35.2) dynamic
mosaicism: |
GTG FISH |
growth retardation, otherwise
normal |
{1287 -
provided by Dr. I. Lurie, Maryland, USA}
case 1} |
|
| case no. |
gender/ age at diagnosis |
studied material |
de novo/ inherited |
karyotype |
test methods |
general clinical
symptoms see also {1295} |
Reference |
|
| RC/W- 04- p1?6q3?5/ 1-1 |
male/ newborn |
PBL, BM
|
dn |
46,XY,r(4)(p1?6q3?5) dynamic mosaicism: 8.5% |
solid
staining |
DD, cleft
lip and palate,
growth retardation, DYS. WHS-like |
{1; 40}
|
|
| RC/W- 04- p1?6q3?5/ 1-2 |
female/ ~5y |
PBL fibros |
dn |
46,XX,r(4)(p1?6q3?5) dynamic mosaicism: 3.6% |
solid
staining ISH |
DD, growth retardation, DYS. WHS-like |
{1; 42}
|
|
| RC/W- 04- p1?6q3?5/ 1-3 |
male/ newborn |
?PBL
|
dn |
46,XY,r(4)(p1?6q3?5) |
solid
staining ISH |
growth retardation |
{1; 43}
|
|
| RC/W- 04- p1?6q3?5/ 1-4 |
female/ ~3y |
PBL
|
dn |
46,XX,r(4)(p1?6q3?5) dynamic mosaicism: 46,XX,r(4)[6]/46,XX[64], at 9y: 46,XX,r(4)[36]/ 46,XX[14] |
solid
staining ISH |
DD, growth retardation, DYS. WHS-like | {1; 44}
|
|
| RC/W- 04- p1?6q3?5/ 1-5 |
male/ 8y |
PBL
|
dn |
46,XY,r(4)(p1?6q3?5) dynamic mosaicism: 46,XY,r(4)[128]/ 45,XY,-r(4)[13] |
GTG |
DD, growth retardation, DYS |
{1; 45; 143}
|
|
| RC/W- 04- p1?6q3?5/ 1-6 |
female/ newborn |
?PBL
|
dn |
46,XX,r(4)(p1?6q3?5) |
GTG |
cleft palate, growth retardation, DYS | {1; 51}
|
|
| RC/W- 04- p1?6q3?5/ 1-7 |
female/ adult |
?PBL
|
?dn |
46,XX,r(4)(p1?6q3?5) |
solid
staining |
sceleat
abnormlaities |
{555} literature not accessible} |
|
| RC/W- 04- p1?6q3?5/ 1-8 |
male/ newborn |
PBL
|
dn |
46,XY,r(4)(p1?6q3?5) dynamic mosaicism: 46,XY,r(4)/45,XY,-4/46,XY |
solid
staining |
DD, growth retardation, DYS |
{556, case 1}
|
|
| RC/W- 04- p1?6q3?5/ 1-9 |
female/ adult |
PBL
|
dn |
46,XX,r(4)(p1?6q3?5) |
GTG |
cleft palate, growth retardation, DYS | {557} literature not accessible} |
|
| RC/W- 04- p1?6q3?5/ 1-10 |
male/ child |
PBL
|
?dn |
46,XY,r(4)(p1?6q3?5) |
GTG |
DD, growth retardation, DYS, seizures | {565} |
|
| RC/W- 04- p1?6q3?5/ 1-11 |
male/ n.a. |
PBL
|
?dn |
46,XY,r(4)(p1?6q3?5) Subtelomere 4pter absent |
GTG FISH |
no details provided apart from blepharophimosis | {575, case
14} |
|
| RC/W- 04- p1?6q3?5/ 1-12 |
female/ n.a. |
PBL
|
?dn |
46,XX,r(4)(p1?6q3?5) |
GTG |
no details provided | {595, case
33} |
|
| RC/W- 04- p1?6q3?5/ 1-13 |
male/ 0.5y |
PBL
|
dn |
46,XY,r(4)(p1?6q3?5) |
GTG |
heart disease, dysplastic kidney | {625, case
4-1} |
|
| RC/W- 04- p1?6q3?5/ 1-14 |
male/ ~4y |
PBL
|
dn |
46,XY,r(4)(p1?6q3?5) |
GTG |
DD, growth retardation, DYS, seizures | {625, case
4-4} |
|
| RC/W- 04- p1?6q3?5/ 1-15 |
male/ newborn |
PBL
|
?dn |
46,XY,r(4)(p1?6q3?5) |
GTG |
DD, growth retardation, DYS, WHS-like | {1257 - provided by Dr. I. Lurie, Maryland, USA} | |
| RC/W- 04- p1?6q3?5/ 1-16 |
male/ ~0.3y |
PBL
|
?dn |
46,XY,r(4)(p1?6q3?5) |
GTG |
DD, micrognathia, growth retardation, DYS, WHS-like | {1258 - provided by Dr. I. Lurie, Maryland, USA} | |
| RC/W- 04- p1?6q3?5/ 1-17 |
male/ 12y |
PBL
|
?dn |
46,XY,r(4)(p1?6q3?5) |
GTG |
growth retardation, DYS | {1259 - provided
by Dr. I.
Lurie, Maryland, USA} case 7 in Tab. 3 |
|
| RC/W- 04- p1?6q3?5/ 1-18 |
female/ newborn |
PBL
|
dn |
46,XY,r(4)(p1?6q3?5) ppossibly shorter in q-arm acc. to karyograms provided dynamic mosaicism: 46,XX,r(4)[~84%]/46,XX,del(4)(q?)[~10%]/47,XX,r(4)x2[~6%] |
GTG |
DYS, heart defect; death at 1m | {1269 - provided by Dr. I.
Lurie, Maryland, USA} |
|
| RC/W- 04- p1?6q3?5/ 1-19 |
n.a./ prenatal |
AF |
?dn |
46,XN,r(4)(p1?6q3?5) 4p seems shortened |
GTG |
DYS, growth retardation; WHS suggested | {1275 -
provided by Dr. I. Lurie, Maryland, USA} |
|
| RC/W- 04- p1?6q3?5/ 1-20 |
male/ postnatal |
PBL |
?dn |
46,XY,r(4)(p1?6q3?5) |
GTG |
DYS, growth retardation. hypotonia; WHS suggested | {1279 -
provided by Dr. I. Lurie, Maryland, USA} |
|
| RC/W- 04- p1?6q3?5/ 1-21 to 1-22 |
female and male/ postnatal |
PBL
|
?dn |
46,XX or XY,r(4)(p1?6q3?5) |
GTG |
growth retardation, DYS | {1280 - provided by Dr. I.
Lurie, Maryland, USA} 2 cases |
|
| RC/W- 04- p1?6q3?5/ 1-23 |
male/ postnatal |
PBL |
?dn |
46,XY,r(4)(p1?6q3?5) |
GTG |
DYS, growth retardation. | {1281 -
provided by Dr. I. Lurie, Maryland, USA} 1 case |
|
| RC/W- 04- p1?6q3?5/ 1-24 |
female/ postnatal |
PBL |
?dn |
46,XX,r(4)(p1?6q3?5) dynamic mosaicism: 46,XX,r(4)/46,XX |
GTG |
DYS, dispigmentation, growth retardation., DYS, hypotonia, WHS-like | {1283 -
provided by Dr. I. Lurie, Maryland, USA} case 4 |
|
| RC/W- 04- p1?6q3?5/ 1-25 |
male/ postnatal |
PBL |
?dn |
46,XY,r(4)(p1?6q3?5) |
GTG |
DYS |
{1286 -
provided by Dr. I. Lurie, Maryland, USA} 1 case |
|
| RC/W- 04- p1?6q3?5/ 1-26 |
male/ 2.3y |
PBL |
?dn |
46,XY,r(4)(p1?6q3?5) |
GTG |
microcephaly,
microganthia, DYS,
hearing impairmed |
{1290 -
provided by Dr. I. Lurie, Maryland, USA} |
|
| RC/W- 04- p1?6q3?5/ 2-1 |
male/ 4y |
PBL
|
dn |
46,XY,r(4)(p1?6q3?5),
der(?17)t(4;?17) |
solid
staining ISH |
DD, growth retardation, DYS. WHS-like |
{1; 41}
|
|
| RC/W- 04- p16q22.3/ 1-1 |
female/ newborn |
PBL
|
dn |
46,XX,r(4)(p16q22.3) dynamic mosaicism: 46,XX,r(4)[12]/47,XX,r(4),+del(4)(q22.3)[4]/46,XX[84] |
GTG |
midgut rotation,
absent scapula |
{1; 61, 582}
|
|
| RC/W- 04- p16q33/ 1-1 |
female/ 5y |
PBL
|
dn |
46,XX,r(4)(p16q33) dynamic mosaicism: 15% |
GTG |
growth retardation |
{1; 48}
|
|
| RC/W- 04- p16q34/ 1-1 |
male/ 1.5y |
PBL
|
dn |
46,XY,r(4)(p16q34) Subtelomere 4pter and 4qter absent WHS CR- |
GTG FISH |
DD, cleft palate, growth retardation, DYS. WHS-like | {1; 68; 1282 - provided by Dr. I. Lurie, Maryland, USA, case 1} | |
| RC/W- 04- p16q35/ 1-1 |
male/ newborn |
PBL
|
dn |
46,XY,r(4)(p16q35) dynamic mosaicism: 46,XY,r(4)[249]/47,XY,r(4)x2[25]/ 46,XY,dr(4)[16]/ 45,XY,-r(4)[8]/47,XY,dr(4)x2[2] |
GTG |
DD, growth retardation |
{1; 46}
|
|
| RC/W- 04- p16q35/ 1-2 |
male/ newborn |
PBL
|
dn |
46,XY,r(4)(p16q35) dynamic mosaicism: 3.8% loss r, 5.7%, 2 monocentric r, 9.4% 2 dicentric r, 2 cells, unstable derivatives |
GTG |
DD, growth retardation, DYS. |
{1; 52}
|
|
| RC/W- 04- p16q35/ 1-3 |
female/ 1y |
PBL
|
dn |
46,XX,r(4)(p16q35) dynamic mosaicism: 3.6% loss of r, 8.8% dicentric r and unstable derivatives |
GTG |
DD | {1; 53; 54}
|
|
| RC/W- 04- p16q35/ 1-4 |
male/ 12y |
PBL
|
dn |
46,XY,r(4)(p16q35) dynamic mosaicism: 46,XY,r(4)[40]/46,XY,dr(4) [4]/45,XY,-r(4)[4]/46,XY[2] |
GTG |
DD, growth retardation, DYS. |
{1; 55}
|
|
| RC/W- 04- p16q35/ 1-5 |
male/ ~1y |
PBL
|
dn |
46,XY,r(4)(p16q35) |
GTG |
DD, growth retardation, DYS. |
{1; 56}
|
|
| RC/W- 04- p16q35/ 1-6 |
female/ newborn |
PBL
|
dn |
46,XX,r(4)(p16q35) dynamic mosaicism: 13% |
GTG |
DD, growth retardation, DYS. WHS-like |
{1; 50}
|
|
| RC/W- 04- p16q35/ 1-7 |
female/ newborn |
PBL
|
dn |
46,XX,r(4)(p16q35) dynamic mosaicism: 46,XX,r(4)[81]/45,XX,-4[12]/ 47,XX,+r(4)x2[2] |
GTG |
DD, growth retardation, DYS. |
{1; 58}
|
|
| RC/W- 04- p16q35/ 1-8 |
male/ ~5y |
PBL
|
dn |
46,XY,r(4)(p16q35) dynamic mosaicism: 46,XY,r(4)[270]/45,XY,-r(4)[4] 8.7% cells unstable derivatives |
GTG |
growth retardation, DYS |
{1; 75, case 1}
|
|
| RC/W- 04- p16q35/ 1-9 |
male/ newborn |
PBL
|
dn |
46,XY,r(4)(p16q35) |
GTG |
growth retardation, DYS |
{625, case
4-2}
|
|
| RC/W- 04- p16q35/ 1-10 |
male/ ~1y |
PBL
|
dn |
46,XY,r(4)(p16q35) dynamic mosaicism: 46,XY,r(4)[52]/46,XY,+dr(4)[5]/47,XY,r(4)x2[3] |
GTG |
DD |
{897}
|
|
| RC/W- 04- p16q35/ 1-11 |
female/ |
PBL |
?dn |
46,XX,r(4)(p16q35) dynamic
mosaicism: |
GTG |
DD, DYS, growth retardation, microcephaly | {1199} |
|
| RC/W- 04- p16q35/ 1-12 |
female/ |
PBL |
?dn |
46,XX,r(4)(p16q35) dynamic
mosaicism: |
GTG |
DD, microcephaly, growth retardation, DYS | {1200; 1260 and 1273 - provided by Dr. I. Lurie, Maryland, USA} | |
| RC/W- 04- p16q35/ 1-13 |
female/ |
AF, PBL |
?dn |
46,XX,r(4)(p16q35) dynamic
mosaicism: PBL: 46,XX,r(4)[24]/45,XX,-4[4] |
GTG |
IUGR; DD, microcephaly, growth retardation, DYS, hypotonia | {1266 - provided by Dr. I. Lurie, Maryland, USA} | |
| RC/W- 04- p16q35/ 1-14 |
male/ |
PBL |
?dn |
46,XY,r(4)(p16q35) dynamic
mosaicism: Subtelomere 4pter and 4qter absent |
GTG FISH |
DD, microcephaly, growth retardation, DYS, VSD | {1267 -
provided by Dr. I. Lurie, Maryland, USA}
case 2 |
|
| RC/W- 04- p16q35/ 1-15 |
female/ |
PBL |
?dn |
46,XX,r(4)(p16q35) |
GTG | DD, microcephaly, growth retardation, WHS-like | {1270 -
provided by Dr. I. Lurie, Maryland, USA} 1
case |
|
| RC/W- 04- p16q35/ 1-16 |
female/ |
PBL |
?dn |
46,XX,r(4)(p16q35) |
GTG | DYS, WHS-like | {1271 -
provided by Dr. I. Lurie, Maryland, USA}
case 8 |
|
| RC/W- 04- p16q35/ 1-17 |
female/ |
PBL |
?dn |
46,XX,r(4)(p16q35) |
GTG | DYS, microcephaly, growth retardation, heart defect | {1277 -
provided by Dr. I. Lurie, Maryland, USA}
case 22 |
|
| RC/W- 04- p16q35/ 1-18 |
male/ |
AF |
?dn |
46,XY,r(4)(p16q35) dynamic
mosaicism: WHS region absent; subtelomere 4qter absent |
GTG FISH |
DYS, growth retardation, WHS-like, heart defect | {1278 -
provided by Dr. I. Lurie, Maryland, USA} |
|
| RC/W- 04- p16q35/ 1-19 |
female/ |
PBL |
?dn |
46,XX,r(4)(p16q35) |
GTG FISH |
DYS, growth retardation, WHS-like, dispigmentation | {1288, 1
case; 1319, case 1 - provided by Dr. I.
Lurie, Maryland, USA} |
|
| RC/W- 04- p16q35/ 1-20 |
female/ |
PBL |
?dn |
46,XX,r(4)(p16q35) dynamic mosaicism:46,XX,r(4)[19]/47,XX,r(4)x2)[1] |
GTG |
DYS, growth retardation, WHS-like | {1292 -
provided by Dr. I. Lurie, Maryland, USA} case 11 |
|
| RC/W- 04- p16.3q34/ 1-1 |
male/ n.a. |
PBL
|
dn |
46,XY,r(4)(p16.3q34) |
GTG mol Gen |
DD, growth retardation, DYS |
{576, case
MB}
|
|
| RC/W- 04- p16.3q34/ 1-2 |
male/ n.a. |
PBL
|
dn |
46,XY,r(4)(p16.3q34) |
GTG mol Gen |
DD, growth retardation, DYS |
{576, case
BK; 577} |
|
| RC/W- 04- p16.3q34/ 1-3 |
male/ newborn |
PBL
|
?dn |
46,XY,r(4)(p16.3q34) dynamic
mosaicism: at 10y: 2 cells with 46,XY WHS region absent; subtelomere 4qter absent |
GTG FISH |
at 10y: DD, DYS, immune deficiency,
seizures, WHS-like |
{1264 -
provided by Dr. I. Lurie, Maryland, USA} |
|
| RC/W- 04- p16.3q34.3/ 1-1 |
n.a./ n.a. |
PBL
|
?dn |
46,XY,r(4)(p16.3-q22.2::q22.2->q34.3) no loss in 4pter but~9Mb in 4qter; also ~0.33 Mb loss in 4q22.2 also ~2.2 Mb loss in 3q21.1q21.2 |
GTG aCGH |
DD |
{1284 -
provided by Dr. I. Lurie, Maryland, USA}
case 32 in Suppl Tab. 9 |
|
| RC/W- 04- p16.3q35.1/ 1-1 |
male/ ~2y |
PBL
|
dn |
46,XY,r(4)(p16.3q35.1) aCGH: loss in 4pter of ~0.5Mb and in 4qter of ~4.5Mb |
GTG FISH aCGH |
DD, growth retardation, microcephaly,
DYS. |
{1287 -
provided by Dr. I. Lurie, Maryland, USA}
case 3 |
|
| RC/W- 04- p16.3q35.1~35.2/ 1-1 |
female/ prenatal |
AF
|
?dn |
46,XX,r(4)(p16.3q35.1~35.2) |
GTG |
DYS; TOP |
{1293 -
provided by Dr. I. Lurie, Maryland, USA}
case 6 |
|
| RC/W- 04- p16.3q35.2/ 1-1 |
male/ 5m |
PBL
|
dn |
46,XY,r(4)(p16.3q35.2) dynamic mosaicism: 46,XY,r(4)[9]/45,XY,-r(4)[1] Subtelomere 4pter and 4qter present WHS CR+ |
GTG FISH |
DD, growth retardation, DYS. |
{1; 63}
|
|
| RC/W- 04- p16.3q35.2/ 1-2 |
female/ ~1.3y |
PBL
|
dn |
46,XX,r(4)(p16.3q35.2) |
GTG FISH |
growth retardation, DYS,
dispigmentation |
{1; 64; 625,
case 4-3} |
|
| RC/W- 04- p16.3q35.2/ 1-3 |
female/ newborn |
PBL
|
dn |
46,XX,r(4)(p16.3q35.2) Subtelomere 4pter and 4qter present WHS CR+ acc. to aCGH in 4p: 0.76 Mb loss |
GTG FISH aCGH |
growth retardation |
{1; 72}
|
|
| RC/W- 04- p16.3q35.2/ 1-4 |
female/ 11y |
PBL
|
dn |
46,XX,r(4)(p16.3q35.2) dynamic mosaicism: 4.3% Subtelomere 4pter and 4qter present WHS CR+ acc. to aCGH in 4p: 1.8Mb loss |
GTG FISH |
growth retardation, DYS. WHS-like | {1; 78, case 2}
|
|
| RC/W- 04- p16.3q35.2/ 1-5 |
male/ 6y |
PBL
|
dn |
46,XY,r(4)(p16.3q35.2) dynamic mosaicism: 46,XY,r(4)[42]/46,XY,dr(4)[3]/ 45,XY,-4[1]/47,XY,r(4)x2[1]/46,XY,-del(4)(?q25)[1]/46,XY,[11] Subtelomere 4pter and 4qter present WHS CR+ No imbalance in aCGH |
GTG FISH aCGH |
growth retardation, DYS. |
{1; 82}
|
|
| RC/W- 04- p16.3q35.2/ 1-6 |
female/ newborn |
PBL
|
dn |
46,XX,r(4)(p16.3q35.2) dynamic mosaicism: 46,XX,r(4)[21]/45,XX,−r(4)[9] Subtelomere 4pter and 4qter present WHS CR+ |
GTG FISH |
growth retardation, DYS. | {1; 83}
|
|
| RC/W- 04- p16.3q35.2/ 2-1 |
male/ newborn |
PBL
|
dn |
46,XY,r(4)(p16.3q35.2) dynamic mosaicism: 46,XY,r(4)[9]/46,XY[11] Subtelomere 4pter absent and 4qter present WHS CR+ |
GTG FISH |
DD, growth retardation, DYS. WHS-like | {1; 62}
|
|
| RC/W- 04- p16.3q35.2/ 2-2 |
female/ 27y |
PBL
|
dn |
46,XX,r(4)(p16.3q35.2) dynamic mosaicism: 46,XX,r(4)[160]/45,XX,-r(4)[16]/ 46,XX,dr(4)[9]/ 47,XX,r(4)x2[8]/46,XX[21] Subtelomere 4pter absent and 4qter present WHS CR+ |
GTG FISH |
DD, growth retardation. |
{1; 66}
|
|
| RC/W- 04- p16.3q35.2/ 2-3 |
male/ newborn |
PBL
|
dn |
46,XY,r(4)(p16.3q35.2) Subtelomere 4pter absent and 4qter present WHS CR+ acc. to aCGH in 4p: 1.3~1.5 Mb loss |
GTG FISH aCGH |
growth retardation |
{1; 71}
|
|
| RC/W- 04- p16.3q35.2/ 2-4 |
female/ 2.5y |
PBL
|
dn |
46,XX,r(4)(p16q35.2) Subtelomere 4pter absent and 4qter present WHS CR+ |
GTG FISH |
DD, growth retardation, DYS. |
{1; 67}
|
|
| RC/W- 04- p16.3q35.2/ 2-5 |
male/ 1.6y |
PBL
|
dn |
46,XY,r(4)(p16.?3q35.2) dynamic mosaicism: 46,XY,r(4)[83]/ 45,XY,-4[6]/47,XY,r(4)x2[5]/ 48,XY,r(4)x2,+dr(4)[1]/ 46,XY[5] Subtelomere 4pter absent and 4qter present WHS CR+ acc. to aCGH in 4p: 0.9 Mb loss |
GTG FISH aCGH |
DD, growth retardation | {1; 74}
|
|
| RC/W- 04- p16.3q35.2/ 2-6 |
male/ 23y |
PBL
|
dn |
46,XY,r(4)(p16.3q35.2) dynamic mosaicism: 46,XY,r(4)[31]/45,XY,-r(4)[3] Subtelomere 4pter absent and 4qter present WHS CR− acc. to aCGH in 4p: 0.852 Mb loss |
GTG ?FISH aCGH |
DD, growth retardation, DYS. WHS-like | {1; 80}
|
|
| RC/W- 04- p16.3q35.2/ 2-7 |
male/ newborn |
PBL
|
dn |
46,XY,r(4)(p16.3q35.2) dynamic mosaicism: 46,XY,r(4)[259]/45,XY,-4[25]/47,XY,r(4)x2[8]/46,XY,der(4)del(4)(p16.3)inv(4)(p16.3q31.1)[6]/46,XY,dr(4)[4]/48,XY,r(4),+r(4)×2[3]/ 46,XY,r(4)(p1?q2?)[2] Subtelomere 4pter absent and 4qter present WHS CR− acc. to aCGH in 4p: 2.98 Mb loss |
GTG FISH aCGH |
DD, growth retardation, DYS. WHS-like | {142}
|
|
| RC/W- 04- p16.3q35.2/ 2-8 |
male/ 6y |
PBL
|
?dn |
46,XY,r(4)(p16.3q35.2) Subtelomere 4pter absent and 4qter present |
GTG FISH |
DD, growth retardation,
DYS |
{559}
|
|
| RC/W- 04- p16.3q35.2/ 2-9 |
male/ 4y |
PBL
|
?dn |
46,XY,r(4)(p16.3q35.2) dynamic mosaicism: 46,XY,r(4)[81]/45,XY,−4[9] Subtelomere 4pter absent and 4qter present |
GTG FISH |
DD, microcephaly,
growth retardation, DYS |
{1268 -
provided by Dr. I. Lurie, Maryland, USA}
case 1 |
|
| RC/W- 04- p16.3q35.2/ 3-1 |
male/ child |
PBL
|
dn |
46,XY,r(4)(p16.3q35.2) dynamic mosaicism: 46,XY,r(4)[84]/47,XY,r(4),+r(4) [7]/45,XY,-4[3]/46,XY,add (4)(p16)[3]/46,XY,dr(4) [2]/48,XY,r(4)x3[1] Subtelomere 4pter absent and 4qter present WHS CR+ acc. to aCGH in 4p: 0.647 Mb loss NGS: normal |
GTG FISH aCGH NGS |
DYS. |
{1; 85}
|
|
| RC/W- 04- p16.3q35.2/ 4-1a and 4-1b |
2 females/ 6m |
PBL
|
dn |
46,XX,r(4)(p16.3q35.2) dynamic mosaicism: 46,XX,r(4)[29]/46,XX,dr(4)[1] Subtelomere 4pter present and 4qter absent WHS CR+ acc. to aCGH in 4p: 0.06 Mb loss in 4q: 1.54 Mb loss |
GTG FISH aCGH |
twin sisters mild DD, growth retardation, DYS |
{1; 86 cases 1
and 2; 2107} |
|
| RC/W- 04- p16.3q35.2/ 5-1 |
female/ prenatal |
AF, PBL |
dn |
46,XX,r(4)(p16.3q35.2) Subtelomere 4pter and 4qter absent acc. to aCGH in 4p: 0.13 Mb loss in 4q: 2.45 Mb |
GTG FISH aCGH |
growth retardation, DYS. |
{1; 79}
|
|
| RC/W- 04- p16.3q35.2/ 5-2 |
female/ 1.5y |
PBL |
?dn |
46,XX,r(4)(p16.3q35.2) Subtelomere 4pter and 4qter absent; WHS-region lost |
GTG FISH |
DD, growth retardation, DYS,
hypotonia; WHS-like |
{1291 -
provided by Dr. I. Lurie, Maryland, USA}
case 9 |
|
| RC/W- 04- p16.3q35.2/ 5-3 |
female/ 2.5y |
PBL |
?dn |
46,XX,r(4)(p16.3q35.2) Subtelomere 4pter and 4qter absent; WHS-region lost |
GTG FISH |
DD, growth retardation, DYS,
hypotonia; WHS-like |
{1291 -
provided by Dr. I. Lurie, Maryland, USA}
case 10 |
|
| RC/W- 04- p16.3q35.2/ 5-4 |
female/ prenatal |
PBL |
dn |
46,XX,r(4)(p16.3q35.2) Subtelomere 4pter and 4qter absent; WHS-region lost acc. to aCGH in 4pter: 8.4 Mb loss and in 4qter: 5.4 Mb loss |
GTG FISH aCGH |
DD, growth retardation, DYS,
hypotonia; WHS-like |
{1296 -
provided by Dr. I. Lurie, Maryland, USA} |
|
| RC/W- 04- p16.3q35.2/ 6-1 |
female/ newborn |
PBL
|
dn |
46,XX,r(4)(p16.3q35.2) dynamic mosaicism: 46,XX,r(4)[58]/45,XX,-4[7]/46,XX,dr(4)[7]/46,XX[10] Subtelomere 4pter and 4qter absent WHS CR+ acc. to aCGH in 4p: 1.7 Mb loss and 0.324 Mb gain in 4q: 2.9 Mb loss |
GTG FISH aCGH |
DD,
growth retardation, DYS. |
{1; 84}
|
|
| RC/W- 04- p16.3q35.2/ 7-1 |
female/ |
PBL |
?dn |
46,XX,r(4)(p16.3->p16.3::p16.3->q35.2) dynamic
mosaicism: 46,XX,r(4)[90]/46,XX[10] |
GTG FISH aCGH |
DD, DYS, growth retardation,
microcephaly, micrognathia |
{1201} |
|
| RC/W- 04- p16.3q35.2/ 8-1 |
n.a./ |
PBL |
?dn |
46,XN,r(4)(p16.3->q35.2) |
GTG FISH |
WHS-like |
{1274 - provided by Dr. I. Lurie, Maryland, USA} case 98 | |
| RC/W- 04- p16.3q35.2/ 9-1 |
male/ |
PBL |
?dn |
46,XY,r(4)(p14->p16.3::p16.3->q35.2) dynamic
mosaicism: 46,XY,r(4)[86]/46,XY[14] |
GTG FISH aCGH |
DD, DYS, growth retardation,
microcephaly, micrognathia |
{1294 -
provided by Dr. I. Lurie, Maryland,
USA} |
|
| RC/W- 04- p16.2q34/ 1-1 |
male/ newborn |
PBL
|
dn |
46,XY,r(4)(p16.2q34) dynamic mosaicism: 46,XY,r(4) [33]/45,XY,-r(4)[1]F: 46,XY |
GTG |
growth retardation, DYS,cleft
lip and palate. |
{1; 57}
|
|
| RC/W- 04- p16.2q34.1/ 1-1 |
female/ 5y |
PBL
|
?dn |
46,XX,r(4)(p16.2q34.1) dynamic mosaicism: 46,XX,r(4)[14]/46,XX,r(4)(::p11->q32.1::q32.1->p11::)[4]/ 46,XX,r(4)(p11q35.1)[3]/ 45,XX,-4[3]/46,XX,r(4)(::p16.2->q35.1::q12->q35.1::)[2]/ 46,XX,r(4)(::p16.2->q27::q11->q32.1::)[2]/ 47,XX,r(4)(::p16.2->q35.1::q12->q35.1::),+r(4)(p11q35.1)[1]/ 47,XX,-4,+r(4)(::p16.2->q27::q11->q32.1::)x2[1]/ 47,XX,-4,+r(4)(::p11->q32.1::q32.1->p11::)x2[1]/ 47,XX,-4,r(4)(::p16.2->q34.1::)x2[1]/ 46,XX,r(4)(::p16.2->q34.1::p16.2->q34.1::)[1]/ 46,XX,r(4)(p16.2q35.1)[1]/ 45,XX,-4,-14,+der(4)t(4;14)(q32.1;q11.2)[1] |
GTG FISH |
DYS, DD |
{541, case 1; 592, case
1; 1261 -
provided
by Dr.
I. Lurie, Maryland, USA} |
|
| RC/W- 04- p16.1q3?5/ 1-1 |
female/ n.a. |
PBL
|
?dn |
46,XX,r(4)(p16.1q3?5) acc. to aCGH in 4p: 8.1Mb loss and in 4q: no details provided |
GTG aCGH |
DD, cleft
lip and palate, growth
retardation, DYS, seizures |
{575, case 4}
|
|
| RC/W- 04- p16.2q35.2/ 1-1 |
female/ 2y |
PBL
|
dn |
46,XX,r(4)(p16.2q35.2) dynamic mosaicism: 46,XX,r(4)[82]/45,XX,-4[7]/47,XX,r(4)x2[4]/46,XX,dr(4)[3] 4 cells 46,XX with broken r(4) Subtelomere 4pter present and 4qter absent WHS CR+ acc. to aCGH in 4p: 5.1 Mb loss |
GTG aCGH |
DD, growth retardation, DYS. |
{1; 77}
|
|
| RC/W- 04- p16.1q35.1/ 1-1 |
male/ ~1.3y |
PBL
|
dn |
46,XY,r(4)(p16.1q35.1) Subtelomere 4pter and 4qter absent WHS CR- acc. to aCGH in 4p: 8.6Mb loss and in 4q: 7 Mb loss |
GTG FISH aCGH |
DD, cleft lip and palate, growth retardation, DYS. WHS-like | {1; 69}
|
|
| RC/W- 04- p15q35/ 1-1 |
male/ newborn |
PBL
|
dn |
46,XY,r(4)(p15q35) dynamic mosaicism: 46,XY,r(4)[97]/ 45,XY,-r(4)[8] |
GTG |
DD, cleft lip and palate, growth retardation, DYS. WHS-like | {1; 47}
|
|
| RC/W- 04- p15q35/ 1-2 |
male/ 5y |
PBL
|
dn |
46,XY,r(4)(p15q35) |
GTG |
DD, growth retardation, DYS. WHS-like | {1; 49}
|
|
| RC/W- 04- p15q35/ 1-3 |
male/ prenatal |
AF fibro |
dn |
46,XY,r(4)(p15q35) |
GTG |
growth retardation, DYS. WHS-like | {1; 59}
|
|
| RC/W- 04- p15.3q34/ 1-1 |
female/ prenatal |
PBL
|
dn |
46,XX,r(4)(p15.3q34) dynamic mosaicism: 46,XX,r(4)[10]/45,XX,-4[13] Subtelomere 4pter and 4qter absent WHS CR- |
GTG FISH |
growth retardation, DYS. WHS-like | {1; 65}
|
|
| RC/W- 04- p15.3q35/ 2-1 |
female/ newborn |
PBL
|
dn |
46,XX,r(4)(p15.3q35) |
GTG |
DD, cleft lip and palate, DYS. WHS-like | {1; 81}
|
|
| RC/W- 04- p15.2q35.2/ 1-1 |
male/ prenatal |
AF, CVS, fibros,
PBL |
dn |
46,XY,r(4)(p15.2q35.2) dynamic mosaicism: 46,XY,r(4)[87]/45,XY,−4[9]/46,XY,dr(4)[13]/47,XY,r(4)x2[1] Subtelomere 4pter and 4qter absent WHS CR- |
GTG FISH |
growth retardation, DYS. WHS-like | {1; 70}
|
|
| RC/W- 04- p15.1q35.2/ 1-1 |
n.a./ postnatal |
PBL |
dn |
46,XN,r(4)(p15.1q35.2) acc. to aCGH in 4pter: 28.5 Mb loss |
GTG FISH aCGH |
not provided |
{1099, case
1} |
|
| RC/W- 04- p15.1q35.2/ 2-1 |
male/ 2y |
PBL |
?dn |
46,XY,r(4)(p15.1q35.2) dynamic mosaicism: 46,XY,r(4)/46,XY,mar(4)/47,XY,r(4),+mar(4). acc. to MLPA in 4pter: 2.85 Mb loss only |
GTG MLPA |
DD, growth retardation, microcephaly, DYS. hypotonia; WHS-like | {1289 - provided by Dr. I. Lurie, Maryland, USA} case 3 | |