ChromosOmics - Database





                                                  - CHROMOSOME  4 -                                                

Cases without
clinical findings
Cases with
clinical findings

most common clinical findings acc to Orphanet and this page
(variable clinical features)

 - 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

Cases without or very mild clinical findings (O)

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,dic r(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/
1.75y
and
female/
newborn

PBL

most likely gonadal mosaic in parent

46,XX,r(4)(p16.3q35.2)

dynamic mosaicism
Subtelomere 4pter present and 4qter absent

GTG

FISH

growth retardation, otherwise normal

 {1267 - provided by Dr. I. Lurie, Maryland, USA}
RC/O-
04-
p16.3q35.2/
3-1

male/
16y

PBL

?dn

46,XY,r(4)(p16.3q35.2)

dynamic mosaicism: 46,XY,r(4)[29]/46,XY[1]
Subtelomere 4pter and 4qter absent

GTG

FISH

growth retardation, DD

 {1272 - provided by Dr. I. Lurie, Maryland, USA}
RC/O-
04-
p16.3q35.2/
3-2

female/
9y

PBL

?dn

46,XX,r(4)(p16.3q35.2)

dynamic mosaicism: 46,XX,r(4)[12]/46,XX[18]
Subtelomere 4pter and 4qter absent

GTG

FISH

growth retardation, otherwise normal

 {1287 - provided by Dr. I. Lurie, Maryland, USA} case 1}

Cases with clinical findings (W)

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: 6.6%; 46,XY,r(4)(p?15q?34)[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)
 possibly 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)(p16q35)[249]/47,XY,r(4),+r(4)
[25]/46,XY,dic r(4)[16]/
45,XY,−r(4)[8]/47,XY,dic r(4),+dic r(4)[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)(p16q35)[40]/46,XY,dic r(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)(p16q35)[81]/45,XX,−4[12]/
47,XX,−4, +r(4) × 2[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)(p16q35)[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(4x2)[3]
 GTG
 		DD
 {897}
RC/W-
04-
p16q35/
1-11

female/
17y

PBL

?dn

46,XX,r(4)(p16q35)

dynamic mosaicism:

46,XX,r(4)/46,XX
 GTG
 		DD, DYS, growth retardation, microcephaly {1199}
RC/W-
04-
p16q35/
1-12

female/
29y

PBL

?dn

46,XX,r(4)(p16q35)

dynamic mosaicism:

46,XX,r(4)[24]/46,XX[2]/45,XX,-4[3],46,XX,dr(4)[1]
 GTG
 		DD, microcephaly, growth retardation, DYS {1200; 1260 and 1273 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
04-
p16q35/
1-13

female/
prenatal  ~ newborn

AF, PBL

?dn

46,XX,r(4)(p16q35)

dynamic mosaicism:

AF: 46,XX,r(4)[8]/45,XX,-4[12]
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/
~1.7y

 PBL

?dn

46,XY,r(4)(p16q35)

dynamic mosaicism:

46,XY,r(4)[92]/45,XY,-4[8]
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/
4y

 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/
~2y

 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/
child

 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/
prenatal

AF

?dn

 46,XY,r(4)(p16q35)

dynamic mosaicism:

46,XY,r(4)[16]/45,XY,-4[10]/46,XY[10]
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/
postnatal

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/
2y

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:

46,XY,r(4)[77]/45,XY,-4[13],47,XY,r(4)x2[10]
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)(p16q35.2)[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)(p16.3q35.2)[42]/46,XY,dic r(4)[3]/
45,XY,−4[1]/47,XY,r(4),+r(4)[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)(p16.3q35)[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)(p16.3q35)[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)(p16q35)[160]/45,XX,−r(4)[16]/
46,XX,dic r(4)[9]/
47,XX,r(4),+r(4)[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)(p16.3q35)[83]/ 45,XY,−4[6]/47,XY,r(4),+r(4)[5]/ 48,XY,r(4),+r(4),+dic r(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)(p16.3q35.2)[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), +r(4)[8]/46,XY,der(4)del(4)(p16.3)inv(4)(p16.3q31.1)[6]/46,XY,dic?r(4;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,dic r(4)
[2]/48,XY,r(4),+r(4),+r(4)[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)(p16q35)[29]/46,XX,dup(r)
(:p16→q35::p16→q35:)[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}
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)(p16.3q35.2)[58]/45,XX,−4[7]/46,XX,dic r(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/
10y

PBL

?dn

46,XX,r(4)(p16.3->p16.3::p16.3->q35.2)

dynamic mosaicism:

46,XX,r(4)[90]/46,XX[10]

aCGH: in 4pter ~1.7Mb and in 4qter ~2.3Mb lost and in 4p16.3 ~0.3Mb dup

GTG

FISH

aCGH

DD, DYS, growth retardation, microcephaly, micrognathia

 {1201}
RC/W-
04-
p16.3q35.2/
8-1

n.a./
postnatal

PBL

?dn

46,XN,r(4)(p16.3->q35.2)

in 4pter ~3.4-3.7Mb lost and in 4qter not reported

GTG

FISH

WHS-like

 {1274 - provided by Dr. I. Lurie, Maryland, USA} case 98
RC/W-
04-
p16.3q35.2/
9-1

male/
34y

PBL

?dn

46,XY,r(4)(p14->p16.3::p16.3->q35.2)

dynamic mosaicism:

46,XY,r(4)[86]/46,XY[14]

aCGH: in 4pter ~1.56Mb lost and in 4p16.3 to 4p14 37.7Mb inverted dup

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) (p16.2q34)[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)(p16.2q34.1)[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]
5 years DD
DS 		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)(p16.3q35.2)[82]/45,XX,−4[7]/4
7,XX,r(4),+r(4)[4]/46,XX,dic r(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: 14.6%;46,XY,r(4)(p15q35)[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: 45,XX,−4[13]/46,XX,
r(4)(p15.3q34)[10]
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: 45,XY,−4[9]/46,XY,r(4)(p15.2q35.2)[87]/46,XY,dic r(4)[13]/47,XY,r(4),+r(4)[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)
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