Elenco delle 100 patologie causate da microdelezione/microduplicazione cromosomica e degli oltre 150 geni che vengono investigati con il cariotipo molecolare mediante tecnica Array-CGH

Elenco delle 100 patologie causate da microdelezione/microduplicazione cromosomica e degli oltre 150 geni che vengono investigati con il cariotipo molecolare mediante tecnica Array-CGH


    

Disease

OMIM

Locus

Cyto band

1p36 Deletion Syndrome

607872

P21127-10

1p36.33

1q21.1 Deletion Syndrome, 1.35-Mb

612474

N/A

1q21.1

3q29 Microdeletion Syndrome

609425

DLG1, PAK2

3q29

15q13.3 Microdeletion Syndrome

612001

N/A

15q13.2-q13.3

17q21.31 Microdeletion Syndrome

610443

CRHR1, MAPT

17q21.31

22q11.2 Deletion Syndrome, Distal

611867

N/A

22q11.21-q11.23

22q13.3 Deletion Syndrome

606232

SHANK3

22q13.33

Adenomatous Polyposis Of The Colon; Apc

175100

APC

5q22.2

Adrenal Hypoplasia, Congenital; Ahc

300200

NR0B1

Xp21.2

Alagille Syndrome 1; Algs1

118450

JAG1

20p12.2

Angelman Syndrome; As

105830

UBE3A

ATP10A

MECP2

15q11.2

15q12

Xq28

Aniridia; An

106210

PAX6

11p13

Autism

209850

N/A

RPL10

16p11.2

Xq28

Autism, X-Linked, Susceptibility To, 2

300495

NLGN4X

Xp22.31-p22.32

Autism, X-Linked, Susceptibility To, 1

300425

NLGN3

Xq13.1

Autism, X-Linked, Susceptibility To, 3

300496

MECP2

Xq28

Basal Cell Nevus Syndrome; Bcns

109400

PTCH1

9q22.32

Beckwith-Wiedemann Syndrome; Bws

130650

NSD1

H19, IGF2

KCNQ1

CDKN1C

5q35.2-q35.3

11p15.5

11p15.4-p15.5

11p15.4

Brachydactyly-Mental Retardation Syndrome; Bdmr

600430

Z51342

2q37.3

Branchiootorenal Syndrome 1; Bor1

113650

EYA1

8q13.3

Bruton Agammaglobulinemia Tyrosine Kinase; Btk

300300

BTK

Xq22.1

Buschke-Ollendorff Syndrome

166700

N/A

12q14.2-q15

Campomelic Dysplasia

114290

SOX9

17q24.3

Cat Eye Syndrome; Ces

115470

CECR5, CECR1, CECR6

22q11.1

Charcot-Marie-Tooth Disease, Demyelinating, Type 1a; Cmt1a

118220

PMP22

17p12

Charcot-Marie-Tooth Disease, X-Linked, 1; Cmtx1

302800

GJB1

Xq13.1

Charge Syndrome

214800

CHD7

8q12.2

Cleidocranial Dysplasia; Ccd

119600

RUNX2

6p12.3

Cornelia De Lange Syndrome 1; Cdls1

122470

NIPBL

5p13.2

Cri-Du-Chat Syndrome

123450

TERT

Z23908

5p15.33

5p15.2

Dandy-Walker Syndrome; Dws

220200

ZIC1, ZIC4

3q24

Diaphragmatic Hernia, Congenital

142340

CHD2

NR2F2

15q26.1

15q26.2

Digeorge Syndrome/Velocardiofacial Syndrome Spectrum Of Malformation 2

601362

D10S293

NEBL

10p14

10p12.31

Digeorge Syndrome; Dgs

188400

HIRA, TBX1

22q11.21

Dosage-Sensitive Sex Reversal; Dss

300018

NR0B1

Xp21.2

Down Syndrome

190685

DSCR2

GATA1

21q22.2

Xp11.23

Feingold Syndrome

164280

MYCN

2p24.3

Fragile X Mental Retardation Syndrome

300624

FMR1

Xq27.3

Greig Cephalopolysyndactyly Syndrome; Gcps

175700

GLI3

7p14.1

Heterotaxy, Visceral, 1, X-Linked; Htx1

306955

ZIC3

Xq26.3

Holoprosencephaly

236100

TMEM1

21q22.3

Holoprosencephaly 2; Hpe2

157170

SIX3

2p21

Holoprosencephaly 3; Hpe3

142945

SHH

7q36.3

Holoprosencephaly 4; Hpe4

142946

TGIF1

18p11.31

Holoprosencephaly 5; Hpe5

609637

ZIC2

13q32.3

Hyperglycerolemia

307030

GK3P

Xp21.2

Hypoparathyroidism, Sensorineural Deafness, And Renal Disease

146255

GATA3

10p14

Ichthyosis, X-Linked; Xli

308100

STS

Xp22.31

Jacobsen Syndrome; Jbs

147791

N/A

11q23.1-q24.1

Johanson-Blizzard Syndrome; Jbs

243800

UBR1

15q15.2

Joubert Syndrome 4; Jbts4

609583

NPHP1

2q13

Kabuki Syndrome

147920

N/A

8p22

Kallmann Syndrome 1; Kal1

308700

KAL1

Xp22.31

Leri-Weill Dyschondrosteosis; Lwd

127300

SHOX┬╣

Xp22.33

Lissencephaly, X-Linked, 1; Lisx1

300067

DCX

Xq22.3-q23

Mental Retardation, X-Linked, With Panhypopituitarism

300123

SOX3

Xq27.1

Metachromatic Leukodystrophy

250100

ARSA

22q13.33

Microphthalmia, Syndromic 7; Mcops7

309801

HCCS, ARHGAP6

Xp22.2

Miller-Dieker Lissencephaly Syndrome; Mdls

247200

PAFAH1B1, YWHAE, HIC1

17p13.3

Mitochondrial Complex I Deficiency

252010

NDUFS2

NDUFS1

NDUFS6

NDUFS4

NDUFA12L

PTPMT1

NDUFS8, NDUFV1

NDUFV2

NDUFS7

1q23.3

2q33.3

5p15.33

5q11.2

5q12.1

11p11.2

11q13.2

18p11.22

19p13.3

Muscular Dystrophy, Becker Type; Bmd

300376

DMD

DXS7

Xp21.1-p21.2

Xp11.3

Muscular Dystrophy, Duchenne Type; Dmd

310200

DMD

Xp21.1-p21.2

Nail-Patella Syndrome; Nps

161200

LMX1B

9q33.3

Nephronophthisis 1; Nphp1

256100

NPHP1

2q13

Neurofibromatosis, Type I; Nf1

162200

NF1

17q11.2

Neurofibromatosis, Type Ii; Nf2

101000

NF2

22q12.2

Neuropathy, Hereditary, With Liability To Pressure Palsies; Hnpp

162500

PMP22

17p12

Noonan Syndrome 1; Ns1

163950

PTPN11

12q24.13

Pelizaeus-Merzbacher Disease; Pmd

312080

PLP1

Xq22.2

Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis; Pkdts

600273

PKD1

16p13.3

Potocki-Lupski Syndrome; Ptls

610883

RAI1, MFAP4, FLII

17p11.2

Potocki-Shaffer Syndrome

601224

ALX4, EXT2

11p11.2

Prader-Willi Syndrome; Pws

176270

SIM1

6q16.3

Prader-Willi Syndrome; Pws

176270

SNRPN, NDN

15q11.2

Retinoblastoma; Rb1

180200

RB1

13q14.2

Rett Syndrome; Rtt

312750

CDKL5

MECP2

Xp22.13

Xq28

Rieger Syndrome, Type 1; Rieg1

180500

PITX2

4q25

Rubinstein-Taybi Syndrome; Rsts

180849

CREBBP

16p13.3

Saethre-Chotzen Syndrome; Scs

101400

TWIST1

7p21.1

Sex-Determining Region Y; Sry

480000

SRY

Yp11.31

Smith-Magenis Syndrome; Sms

182290

RAI1, MFAP4, FLII

17p11.2

Sotos Syndrome

117550

NSD1

5q35.2-q35.3

Spermatogenic Failure, Nonobstructive, Y-Linked

415000

USP9Y, UTY

CDY2B

JARID1D

NR_001537,

DAZ3, DAZ1,

DAZ2

Yq11.21

Yq11.221

Yq11.222

Yq11.223

Split-Hand/Foot Malformation 1; Shfm1

183600

SHFM1

7q21.3

Split-Hand/Foot Malformation 3; Shfm3

600095

FBXW4

10q24.32

Split-Hand/Foot Malformation 4; Shfm4

605289

TP63

3q28

Split-Hand/Foot Malformation 5; Shfm5

606708

DLX1, EVX2

2q31.1

Synpolydactyly 1; Spd1

186000

HOXD13

2q31.1

Townes-Brocks Syndrome; Tbs

107480

SALL1

16q12.1

Trichorhinophalangeal Syndrome, Type I; Trps1

190350

TRPS1

8q23.3

Trichorhinophalangeal Syndrome, Type Ii; Trps2

150230

TRPS1

EXT1

8q23.3

8q24.11

Tuberous Sclerosis; Ts

191100

TSC1

TSC2

9q34.13

16p13.3

Velocardiofacial Syndrome

192430

ARVCF, TBX1

22q11.21

Williams-Beuren Region Duplication Syndrome

609757

N/A

7q11.23

Williams-Beuren Syndrome; Wbs

194050

GTF2IRD1,

MLXIPL, BAZ1B,

ELN, RFC2,

WBSCR22, FKBP6,

GTF2I, LAT2,

BCL7B, TBL2,

CLIP2, EIF4H,

LIMK1, WBSCR27,

WBSCR16, FZD9,

WBSCR23

7q11.23

Wilms Tumor 1; Wt1

194070

WT1

11p13

Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation

194072

PAX6

11p13

Wolf-Hirschhorn Syndrome; Whs

194190

WHSC1

MSX1

4p16.3

4p16.2


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