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	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