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Elenco delle 100 patologie diagnosticabili mediante Cariotipo molecolare (Array-CGH)

Cariotipo molecolare (Microarray)
Elenco delle 100 patologie diagnosticabili mediante Cariotipo molecolare (Array-CGH)
Elenco delle 100 patologie causate da microdelezione/microduplicazione cromosomica e degli oltre 150 geni descritti nel database OMIM, che vengono investigati con il cariotipo molecolare
 

 Cariotipo Molecolare ”“ Lista 100 Patologie investigate

 

Mediante la suddetta procedura, inoltre, si può oggi effettuare non solo lo studio dell’assetto cromosomico fetale in tempi rapidissimi (2-3 giorni), ma si possono anche identificare patologie derivanti da alterazioni cromosomiche submicroscopiche (microdelezioni e le micro duplicazioni), non evidenziabili tramite il cariotipo tradizionale. In tal modo può essere contemporaneamente studiato un ampio gruppo di 100 sindromi cromosomiche o genetiche, incluse quelle che implicano il riarrangiamento dei subtelomeri (componenti microscopiche del DNA), che sono stati recentemente riconosciuti tra le cause di ritardo mentale.

 

Di seguito viene riportato l’elenco delle 100 patologie causate da microdelezione/microduplicazione cromosomica e degli oltre 150 geni che vengono investigate 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

SHOX¹

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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