cgh array syndromes

1. המעבדה הציטוגנטית - הדסה עין כרם
Chr
Disorder
CytoBand
chr1
1p36 Microdeletion
1p36
chr1
1q21.1 Microdeletion with susceptibility for thrombocytopenia-absent radius (TAR)
1q21.1
chr1
1q21.1 Microdeletion with susceptibility to mental retardation, autism, or congenital anomalies *
1q21.1
chr1
1q41-q42 Microdeletion
1q41
chr1
1q44 Microdeletion
1q44
chr2
2p15-p16.1 Microdeletion
2p15-p16.1
chr2
2p21 Microdeletion, homozygous
2p21
chr2
2q32.2-q33 Microdeletion
2q33.1
chr3
3q29 Microdeletion
3q29
chr6
6p25.3 Microdeletion
6p25.3
chr6
6q24.3 Microdeletion
6q24.3
chr7
7q11.23 Microduplication
7q11.23
chr8
8p23.1 Microdeletion
8p23.1
chr9
9q22.32-q22.33 Microdeletion
9q22.33
chr9
9q34 Microdeletion
9q34.3
chr10
10q22.3-q23.31 Microdeletion
10q22.3-q23.31
chr12
12q14.1-q15 Microdeletion
12q14.3
chr12
12q24.21-q24.23 Microduplication
12q24.21-q24.23
chr14
14q11.2 Microdeletion
14q11.2
chr14
14q22-q23 Microdeletion
14q22-q23
chr15
15q11-q13 Microduplication
15q11-q13
chr15
15q13.3 Microdeletion
15q13.3
chr15
15q24.1-q24.3 Microdeletion
15q24.1-q24.3
chr16
16p11.2 Microdeletion
16p11.2
chr16
16p11.2-p12.2 Microdeletion
16p11.2-p12.2
chr16
16p13.1 Microdeletion predisposing to autism and/or mental retardation
16p13.1
chr16
16p13.3 Microdeletion/Severe Rubinstein-Taybi
16p13.3
chr16
16q11.2-q12.2 Microdeletion
16q11.2-q12.2
chr17
17q21.3 Microdeletion
17q21.3
chr22
22q11.2 Distal microdeletion
22q11.2
chr22
22q11.21 Microduplication
22q11.21
chr22
22q13.3 Microdeletion
22q13.3
chrX
Xp11.22-linked mental retardation
Xp11.22
chrX
Xp11.3 Microdeletion
Xp11.3
chrX
Xp11.4-p21.2 Contiguous gene deletion
Xp11.4-p21.2
chrX
Adrenal hypoplasia congenita (AHC)
Xp21.2
chr20
Alagille
20p12.2
chr2
Albright hereditary osteodystrophy-like/Brachydactyly-MR
2q37.3
chr16
Alpha thalassemia mental retardation (ATR-16)
16p13.3
chr16
Alpha thalassemia mental retardation (ATR-16)
16p13.3
chrX
Androgen insensitivity
Xq12
chr15
Angelman
15q11.2
chr11
Aniridia II
11p13
chr5
Atrial septal defect (ASD) with atrioventricular conduction defects
5q35.2
chr10
Bannayan-Riley-Ruvalcaba (BRRS)
10q23.31
chr11
Beckwith-Wiedemann, IGF2-related
11p15.5
chr11
Beckwith-Wiedemann, KCNQ1OT1-related
11p15.5
chr3
Blepharophimosis, ptosis epicanthus inversus (BPE)
3q22.3
chr5
Boston-type craniosynostosis
5q35.2
chr8
Branchio-oto-renal (BOR)/Melnick-Fraser
8q13.3
chr12
Buschke-Ollendorff
12q14.3
chr17
Campomelic dysplasia (CMPD)
17q24.3
chr22
Cat-eye
22q11.1
chr8
CHARGE
8q12.2
chrX
Choroideremia
Xq21.2
chr6
Cleidocranial dysplasia (CCD)
6p12.3

2. chr15
Congenital diaphragmatic hernia (CDH)
15q26.1
chr8
Congenital diaphragmatic hernia 2 (CDH2)
8p23.1
chr5
Cornelia de Lange
5p13.2
chrX
Craniofrontonasal
Xq13.1
chr5
Cri-du-Chat
5p15.2
chr7
Currarino
7q36.3
chr3
Dandy-Walker malformation (DWM)
3q24
chr22
DiGeorge/Velocardiofacial (VCF)
22q11.21
chr22
DiGeorge/Velocardiofacial (VCF)
22q11.21
chr10
DiGeorge 2
10p14
chrX
Dosage-sensitive sex reversal
Xp21.2
chr21
Down syndrome critical region (DSCR)
21q22.13
chr2
Feingold
2p24.3
chrX
FG 5
Xq22.3
chrX
FMR1 microdeletion
Xq27.3
chrX
Focal dermal hypoplasia/Goltz
Xp11.23
chr2
Generalized epilepsy with febrile seizures plus 2 (GEFS+2)
2q24.4
chrX
Glycerol kinase deficiency (GKD)
Xp21.2
chr7
Greig cephalopolysyndactyly
7p14.1
chrX
Hemophilia A
Xq28
chrX
Hemophilia B
Xq27.1
chr12
Hereditary hemorrhagic telangiectasia, type 2
12q13.13
chr21
Holoprosencephaly 1
21q22.3
chr2
Holoprosencephaly 2
2p21
chr7
Holoprosencephaly 3
7q36.3
chr18
Holoprosencephaly 4
18p11.31
chr13
Holoprosencephaly 5
13q32.3
chr2
Holoprosencephaly 6
2q37.1-q37.3
chr9
Holoprosencephaly 7
9q22.32
chr14
Holoprosencephaly 8
14q13.1-q13.2
chr5
Holoprosencephaly and preaxial polydactyly
5q35.1
chr12
Holt-Oram *
12q24.1
chr10
Hypoparathyroidism, sensorineural deafness, renal disease (HDR)
10p14
chr7
Infantile spasms, MAGI2-related
7q21.11
chr11
Jacobsen/11q terminal deletion disorder
11q23 -11qter
chrX
Kallmann 1
Xp22.31
chr8
Langer-Giedion
8q23.3
chr8
Langer-Giedion
8q24.11
chrX
Langer mesomelic dysplasia (LMD)
Xpter-Xp22.3 &
chrY
Langer mesomelic dysplasia (LMD)
Ypter-Yp11.32
chrX
Leri-Weill dyschondrosteosis (LWD)
Xpter-Xp22.3 &
chrY
Leri-Weill dyschondrosteosis (LWD)
Ypter-Yp11.32
chr17
Lissencephaly 1
17p13.3
chr9
Loeys-Dietz (LDS), TGFBR1-related
9q22.33
chr3
Loeys-Dietz (LDS), TGFBR2-related
3p24.1
chrX
Lowe
Xq25
chr10
Macrocephaly/autism
10q23.31
chr15
Marfan 1 (MFS1)
15q21.1
chr3
Marfan 2 (MFS2)
3p24.1
chrX
McLeod
Xp21.1
chrX
Menkes (MNK)
Xq21.1
chr3
Microphthalmia 3
3q26.33
chrX
Microphthalmia 7 with linear skin defects
Xp22.2
chr17
Miller-Dieker
17p13.3
chrX
Mohr-Tranebjaerg
Xq22.1
chr2
Mowat-Wilson *
2q22.3
chr18
Nablus mask-like facial
8q21.3-q22.1
chr9
Nail-patella (NPS)
9q33.3
chr17
Nephropathic cystinosis
17p13.3

3. chr17
Neurofibromatosis 1 (NF1)/MR
17q11.2
chr22
Neurofibromatosis 2 (NF2)
22q12.2
chr1
NFIA haploinsufficiency
1p31.3
chr12
Noonan 1
12q24.13
chr2
Noonan 4
2p22.1
chrX
Norrie
Xp11.3
chr20
Okihiro
20q13.2
chrX
Opitz
Xp22.2
chrX
Ornithine transcarbamylase deficiency (OTC)
Xp11.4
chrX
Oro-facio-digital 1 (OFD1)
Xp22.2
chr8
Oto-facio-cervical (OFC)
8q13.3
chr12
Pallister-Killian
12p
chr5
Parietal foramina 1
5q35.2
chrX
Pelizaeus-Merzbacher
Xq22.2
chr18
Pitt-Hopkins
18q21.1
chr17
Potocki-Lupski/17p11.2 Microduplication
17p11.2
chr11
Potocki-Shaffer
11p11.2
chr11
Potocki-Shaffer
11p11.2
chr15
Prader-Willi (PWS)
15q11.2
chr6
Prader-Willi-like phenotype
6q16.3
chr10
Proteus/Proteus-like
10q23.31
chr17
Renal cysts and diabetes (RCAD)
17q12
chr13
Retinoblastoma/MR
13q14.2
chr4
Rieger 1 (RIEG1)
4q25
chr16
Rubinstein-Taybi (RTS)
16p13.3
chr7
Saethre-Chotzen
7p21.1
chr9
Sex reversal, autosomal dominant 2 (SRA2)
9p24.3
chr1
Short stature, pituitary and cerebellar defects, small sella turcica
1q25.2
chrX
Simpson-Golabi-Behmel (SGBS)
Xq26.2
chr17
Smith-Magenis (SMS)
17p11.2
chr5
Sotos
5q35.3
chr7
Speech & language disorder 1
7q31.1
chr7
Split-hand/foot malformation 1 (SHFM1)
7q21.3
chr10
Split-hand/foot malformation 3 (SHFM3)
10q24.32
chr3
Split-hand/foot malformation 4 (SHFM4)
3q28
chr2
Split-hand/foot malformation 5 (SHFM5)
2q31.1
chr2
Split-hand/foot malformation 5 (SHFM5)
2q31.1
chrY
SRY Dosage Abnormalities
Yp11.31
chrX
Steroid sulfatase deficiency
Xp22.31
chr2
Synpolydactyly/Syndactyly II
2q31.1
chr16
Townes-Brocks 1
16q12.1
chr8
Trichorhinophalangeal 1
8q23.3
chr9
Tuberous sclerosis 1 (TSC1)
9q34.13
chr16
Tuberous sclerosis 2 (TSC2)
16p13.3
chr12
Ulnar-mammary
12q24.21
chr1
Van der Woude
1q32.2
chr2
Waardenburg I
2q36.1
chr3
Waardenburg IIA
3p14.1
chr11
WAGR
11p13
chr11
WAGR
11p13
chr22
Walker-Warburg, LARGE-related
22q12.3
chr7
Williams-Beuren
7q11.23
chr4
Wolf-Hirschhorn
4p16.3
chrX
X-linked agammaglobulinemia
Xq22.1
chrX
X-linked Alport (ATS)
Xq22.3
chrX
X-linked Alport plus diffuse leiomyomatosis (ATS-DL)
Xq22.3
chrX
X-linked chronic granulomatous disease
Xp11.4
chrX
X-linked heterotaxy
Xq26.3
chrX
X-linked hydrocephalus and nephrogenic diabetes insipidus
Xq28

4. chrX
X-linked hydrocephalus and nephrogenic diabetes insipidus
Xq28
chrX
X-linked idiopathic short stature (ISSX)
Xpter-Xp22.3 &
chrY
X-linked idiopathic short stature (ISSX)
Ypter-Yp11.32
chrX
X-linked infantile spasms, ARX-related
Xp21.3
chrX
X-linked infantile spasms, CDKL5-related
Xp22.13
chrX
X-linked juvenile retinoschisis
Xp22.13
chrX
X-linked lissencephaly
Xq22.3
chrX
X-linked lissencephaly with ambiguous genitalia
Xp21.3
chrX
X-linked lymphoproliferative (XLP)
Xq25
chrX
X-linked mental retardation 21
Xp21.3
chrX
X-linked mental retardation 30
Xq22.3
chrX
X-linked mental retardation with isolated growth hormone deficiency
Xq27.1
chrX
X-linked mental retardation with microcephaly & disproportionate pontine and cerebellar hypoplasia
Xp11.4
chrY
XX male
Yp11.31
chrY
XY gonadal dysgenesis
Yp11.31
chr9
XY sex-reversal, +/- adrenal failure
9q33.3
chrX
X-linked mental retardation
chrX
X-linked mental retardation
chrX
X-linked mental retardation
chr18
18q deletion
18q22.3-q23
chr18
18p deletion
18p11.21p11.32
chr17
CMT / HNPP
17p
chr16
PKD1
16p
chr15
OCA2
15q
chr14
Microphthalmia syn. 6, pituitary hypoplasia (MCOPS6)
14q six6
chr11
contiguous gene deletion located on chromosome 11p
ush1c
chr9
9p microdeletion syndrome
chr6
Diabetes Mellitus, transient neonatal,
6q24-related transient neonatal

5. המעבדה הציטוגנטית רשימת התסמונות המזוהות OMIM
Genes
Candidate genes
607872
274000
612474
ACP6, GJA5, GJA8
DISP1
AKT3
606407
119540
SATB2
609425
609757
GATA4
TGFBR1
610253
EHMT1
10q22.3-q23.31
LEMD3, GRIP1
12q24.21-q24.23
CHD8, SUPT164
600037
608636
612001
CHRNA7
15q24.1-q24.3
611913
16p11.2-p12.2
610543
CREBBP, DNASE1
16q11.2-q12.2
SALL1, ZNF423
610443
MAPT
611867
608363
TBX1
606232
ARSA, SHANK3
HSD17B10, HUWE1
300578
RP2, ZNF674
Xp11.4-p21.2
, IL1RAPL1, OTC
300200
NR0B1
118450
JAG1
600430
141750
HBA1
141850
HBA2
300068
AR
105830
UBE3A
106210
PAX6
108900
NKX2-5
153480
PTEN
130650
IGF2
130650
KCNQ1OT1
110100
FOXL2
604757
MSX2
113650
EYA1
166700
LEMD3
114290
SOX9
115470
214800
CHD7
303100
CHM
119600
RUNX2

6. 142340
CHD2
222400
GATA4
GATA4
122470
NIPBL
304110
EFNB1
123450
176450
MNX1
220200
ZIC1
188400
HIRA
188400
TBX1
601362
300018
NR0B1
602917
164280
MYCN
300581
MID2
300624
FMR1
305600
PORCN
604233
SCN1A
300474
GK
175700
GLI3
306700
F8
306900
F9
600376
ACVRL1
236100
TRAPPC10
157170
SIX3
142945
SHH
142946
TGIF1
609637
ZIC2
605934
610828
PTCH1
609408
605651
FBXW11
142900
TBX5
146255
GATA3
606382
MAGI2
147791
308700
KAL1
150230
TRPS1
150230
EXT1
249700
SHOX
249700
SHOX
127300
SHOX
127300
SHOX
607432
PAFAH1B1 (LIS1)
609192
TGFBR1
610168
TGFBR2
309000
OCRL
605309
PTEN
154700
FBN1
610380
TGFBR2
314850
XK
309400
ATP7A
206900
SOX2
309801
247200
PAFAH1B1 (LIS1)
304700
TIMM8A
235730
ZEB2
608156
161200
LMX1B
219800
CTNS

7. 162200
NF1
101000
NF2
600727
NFIA
163950
PTPN11
610733
SOS1
310600
NDP
607323
SALL4
300000
MID1
311250
OTC
311200
OFD1
166780
EYA1
601803
168500
MSX2
312080
PLP1
610954
TCF4
610883
601224
EXT2
601224
ALX4
176270
SNRPN
176270
SIM1
176920
PTEN
137920
HNF1B
appears in BCM
180200
RB1
180500
PITX2
180849
CREBBP
101400
TWIST1
154230
DMRT1
262700
LHX4
312870
GPC3
182290
RAI1
117550
NSD1
602081
FOXP2
183600
SHFM1
600095
FBXW4
605289
TP63
606708
DLX1
606708
DLX2
278850/400044
SRY
308100
STS
186000
HOXD gene cluster
107480
SALL1
190350
TRPS1
191100
TSC1
191100
TSC2
181450
TBX3
119300
IRF6
193500
PAX3
193510
MITF
194072
PAX6
194072
WT1
236670
LARGE
194050
ELN
194190
300755
BTK
301050
COL4A5
301050
COL4A5
306400
CYBB
306955
ZIC3
L1CAM

8. AVPR2
300582
SHOX
300582
SHOX
308350
ARX
300672
CDKL5
312700
RS1
300067
DCX
300215
ARX
308240
SH2D1A
300143
IL1RAPL1
300558
PAK3
300123
SOX3
300749
CASK
278850
SRY
400044
SRY
184757
NR5A1
NXF5
ZNF674
GRIA3
18q22.3-q2318p11.21p11.32
11p
6q24-related transient neonatal diabetes mellitus