רשימת התסמונות המזוהות באבחון טרום לידתי על ידי השבב...

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המעבדה הציטוגנטית- הדסה עין כרםChr 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 anomalie 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 chr12 12q14.1-q15 Microdeletion 12q14.3 chr12 12q24.21-q24.23 Microduplication 12q24.21-q2 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 chr16 16p11.2 Microdeletion 16p11.2 chr16 16p11.2-p12.2 Microdeletion 16p11.2-p12 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 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. 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

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Page 1: רשימת התסמונות המזוהות באבחון טרום לידתי על ידי השבב הגנומי

הדסה עין כרם- המעבדה הציטוגנטית

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

Page 2: רשימת התסמונות המזוהות באבחון טרום לידתי על ידי השבב הגנומי

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

Page 3: רשימת התסמונות המזוהות באבחון טרום לידתי על ידי השבב הגנומי

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

Page 4: רשימת התסמונות המזוהות באבחון טרום לידתי על ידי השבב הגנומי

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 hypoplasiaXp11.4

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 diabetes mellitus

Page 5: רשימת התסמונות המזוהות באבחון טרום לידתי על ידי השבב הגנומי

הדסה עין כרם- המעבדה הציטוגנטית

רשימת התסמונות המזוהות באבחון טרום לידתי על ידי השבב הגנומי 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

Page 6: רשימת התסמונות המזוהות באבחון טרום לידתי על ידי השבב הגנומי

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

Page 7: רשימת התסמונות המזוהות באבחון טרום לידתי על ידי השבב הגנומי

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

278850/400044SRY

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

Page 8: רשימת התסמונות המזוהות באבחון טרום לידתי על ידי השבב הגנומי

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-q23

18p11.21p11.32

11p

6q24-related transient neonatal diabetes mellitus