100 PATOLOGIE DIAGNIOSTICABILI

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