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LISTE SYNDROMES COUVERTS PAR PUCE ADN AFFYMETRIX Prénatal (64 syndromes)

1p36.33 Monosomy 1p36 1q21.1 Duplication syndrome 2p16.1-p15 Deletion syndrome 2p24.3 Feingold syndrome 2p21 Holoprosencephaly 2 3q24 Dandy-Walker syndrome 3q28 Split-Hand/Foot Malformation 4 3q29 3q29 Microdeletion / Microduplication 4p16.3 Wolf-Hirschhorn syndrome FGFR3 4q25 Rieger syndrome Type 1 5p15.31 Cri-du-Chat syndrome 5p13.2 Cornelia de Lange syndrome 5q35.2 6p21.1 Cleidocranial dysplasia 6q16.3 Prader-Willi-like phenotype 7p21 Saethre-chotzen syndrome; SCS 7p14.1 Greig cephalopolysyndactyly syndrome 7q11.23 Williams-Beuren syndrome 7q21.3 Split-Hand/Foot Malformation 1 7q36.3 Holoprosencephaly 3 8p23.1 8p22 8p22 deletion / duplication syndrome 8q12.1 CHARGE syndrome 8q13.3 Branchiootorenal syndrome 8q23.3 Trichorhinophalangeal syndrome Type I 8q24.11 Trichorhinophalangeal syndrome Type 2 9q33.3 Nail-Patella syndrome LMX1B 10p14 DiGeorge syndrome 2 D10S293 11p15.5 Beckwith-Wiedemann syndrome 11p13 WAGR syndrome 11p11.2 Potocki-Shaffer syndrome 13q14.2 Retinoblastoma 13q32.3 Holoprosencephaly 5 15q11.2 Prader Willi syndrome 15q11.2 Angelman syndrome 15q13.3 Microdeletion syndrome 15q26.1 Diaphragmatic hernia 1 (congenital) 16p13.3 Polycystic kidney disease/tuberous sclerosis 2 16p13.3 Rubinstein-Taybi syndrome CREBBP 17p13.3 Miller-Dieker syndrome 17p12 Charcot-Marie-Tooth disease type 1A 17p11.2 Smith-Magenis syndrome 17p11.2 Potocki-Lupski syndrome 17q11.2 Neurofibromatosis 1 17q21.31 Deletion syndrome 17q24.3 17q24.2-q24.3 hypertrichosis terminalis, generalized, with or without gingival hyperplasia 18p11.31 Holoprosencephaly 4 20p12.2 Alagille syndrome 21q22.2 Down syndrome critical region 21q22.3 Holoprosencephaly 1 22q11.1 Cat eye syndrome 22q11.21 DiGeorge syndrome 22q11.21 Velocardiofacial syndrome 22q11.2 microduplication syndrome 22q12.2 Neurofibromatosis 2 22q13.33 22q13.3 deletion syndrome Xp22.31 Ichthyosis X-linked (steroid sulfatase deficiency) Xp22.31 Kallmann syndrome 1 Xp22.2 Microphthalmia with linear skin defects Xp21.2 Hyperglycerolemia (glycerol kinase deficiency) Xp21.2 Muscular dystrophy (Duchenne Becker) Xq13.1 Charcot-Marie-Tooth X-linked 1 Yp11.31 SRY deletion (sex reversal)

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Postnatal (194 syndromes)

1p31.3 NFIA Haploinsufficiency 1p34.1 Muscle-Eye-Brain Disease 1p34.2 Glucose Transport defect 1p36 Microdeletion 1p36 1p36.13 Bartter 3 1q21.1 Thrombocytopenia absent radius syndrome 1q22 LMNA 1q25.2 Short stature 1q32.2 2p16.3-21 Hereditary non-polyposis colon cancer 2p21 Cystinuria with mitochondrial disease 2p21 Holoprosencephaly 2 2p22.1 Noonan 4 2p24.3 Feingold 2q13 Nephronophthisis 2q22.3 Hirschsprung Disease Plus 2q24.3 SCN1A-related seizures 2q31.1 2q31.1 Split/hand foot malformation -5 2q32.2 Micordeletion 2q33.1-q33.2 2q36.1 I 2q37 .3 Monosomy 2q37.3 3p14.1 Waardenburg syndrome IIA 3p24.1 Marfan 2 3p25.3 Fanconi Anemia 3p25.3 Von Hippel Lindau 3q13.33-q21.1 Hypocalcemia with Bartter 3q22.3 Ble pharophimosis 3q24 Dandy-Walker Syndrome 3q26.1 Cerebral Carvernous Malformations 3q26.3-q27 Microphthalmia 3q28-q29 Optic Atrophy 3q29 Microdeletion 3q29 4p16.3 Muenke / Achondroplasia 4p16.3 Wolf-Hirschhorn 4q22.1 Polycystic kidney disease 4q25 Rieger 5p13.2 Cornelia de Lange 5p15.2-p15.33 Cri-du-Chat 5q22.2 Gardner 5q23.2 Adult-onset autosomal dominant leukodystrophy 5q35.1 Holoprosencephaly and preaxial polydactly 5q35.2 Craniosynostosis type2 5q35.3 SOTOS 6p21.1 VEGFA disorders 6p21.3 Cleidocranial dysplasia 6p21.32 Congenital adrenal hyperplasia 6p25.3 Microdeletion 6p25.3 6q16.3 Obesity, severe 6q24.2 Transient Neonatal diabetes 7p13 Cerebral Carvernous Malformations 7p14.1 Greig cephalopolysyndactyly 7p21.1 Saethre-Chotzen 7q11.23 Williams-Beuren 7q11.23 Williams Microduplication 7q21.2 Cerebral Carvernous Malformations 7q21.3 Split/hand foot 7q22.1 Lissencephaly with cerebellar hypoplasia 7q31.1 Verbal dyspraxia 7q31.2 Cystic Fibrosis 7q36.3 Currarino 7q36.3 Holoprosencephaly 3 8p23.1 Microdeletion 8p23.1 8p23.1 Microdeuplication 8p23.1 8q12.2 21 CHARGE syndrome 8q13.3 Branchio-Oto-Renal Syndrome 8q23.3 Trischororhinophlangeal, Langer-Giedion Syndrome probes 8q24.11 Langer-Giedion Syndrome 9q22.32 Holoprosencephaly 7 9q22.32-q22.33 Loeys-Dietz Microdeletion 9q22.33 9q33.3 Nail-Patella 2

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9q33.3 XY Sex reversal 9q34.11 Hereditary hemorrhagic teangiectasia 9q34.13 Walker/Warburg Syndrome 9q34.13 Tuberous sclerosis-1 9q34.3 Microdeletion (severe) 9q34.3 9q34.3 Microdeletion 9q34.3 10p12.31 Nebulette 10p14 DiGeorge 2 10q22-23 Microdeletion 10q23.1-q23.2 10q23.2-q23.31 Cowden 10q24.32 Split/hand foot malformation -3 10q26.11 Schizencephaly 11p11.2 Potocki-Shaffer 11p13-p14.1 Aniridia 11p13 WAGR Syndrome probes 11p15.1 Ushers disease 11p15.1-p15.2 Craniosynostosis SOX6 11p15.4-p15.5 Beckwith-Wiedemann 11q13.4 Smith-Lemli-Opitz 11q14 Microdeletion 11q14.2 11q23 Jacobsen Deletion Syndrome 11q23.3-q24.3 11q24.3 Bartter 2 12p12.1 Pallistar-Killian 12q13.11 Stickler 1 12q14.21 Holt-Oram 12q14.3 Osteopoikilosis 12q21.32 Joubert 5 12q24.13 Noonan 1 12q24.21 Ulnar-Mammary 13p13-q12.3 Peters Plus Syndrome 13q14 Deletion 13q14.2-q21.1 13q14.2 Retinoblastoma 13q14.3 Wilsons disease 13q32.3 Holoprosencephaly 5 14q13.3 Oligodontia 14q22 Microdeletion 14q22.2-q23.1 14q22.2-q22.3 Dopa resistant dystonia / Parkinsons 15q11.2 Angelman 15q11.2 Prader-Willi 15q13.3 Microdeletion 15q13.3 15q15.3 Infertility and Deafness 15q15.3 15q21.1 Bartter 1 15q21.1 Marfan 1 15q24 Microdeletion 15q24.1 15q26.1-q26.2 Congenital diaphragmatic hernia 16p11.2 Deletion 16p11.2 16p11.2-p12.2 Microdeletion 16p11.2-p12.2 16p13.1 Microdeletion predisposition to Autism 16p13.11 16p13.3 Alpha thalassemia mental retardation 16p13.3 Rubinstein-Taybi Syndrome 16p13.3 Tuberous sclerosis-2 16q12.1 Townes Brocks 16q13 Bilateral frontoparietal polymicrogyria 17p11.2 Smith Magenis Microduplication 17p11.2 Smith-Magenis 17p11.2-p12 Charcot-Marie Tooth Disease 17p11.2-p12 HNPP 17p13.1 Li-Fraumeni 1 17p13.3 Canavan 17p13.3 Cystinosis 17p13.3 Miller-Dieker 17q11.2 Neurofibromatosis 1 17q11.2 NF1 Microduplication 17q11.2 Potocki-Lupski 17q12 Renal cysts and diabetes 17q21.31 Microdeletion 17q21.31 17q21.31 Microduplication 17q21.31 17q21.31 Sclerostin 17q24.3 Campomelic dysplasia 18p11.31 Holoprosencephaly 4 18q21.2 Pitt Hopkins 19p13.12 CADASIL 19p13.3 Peutz-Jeghers Syndrome 19q13.11 Cystinuria 20p12.2 Alagille Syndrome 3

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20q13.2 Okihiro 20q13.32 Albright hereditary osteodystrophy 21q22.13 Down Syndrome Critical Region 21q22.3 Holoprosencephaly 1 22q11.1 Cat-eye 22q11.2 Microduplication 22q11.2 22q11.21 DiGeorge / VCF 22q11.21 DiGeorge Duplication 22q12.2 Neurofibromatosis 2 22q13 Microdeletion (Phelan McDermid syndrome) 22q13.33 22q13.1 Waardenburg syndrome 4 Xp11.22-p11.23 Nephrolithiasis 1 Xp11.3 Norrie disease Xp11.3 Xp11.3 deletion Xp11.4 OTC Xp21.1-p21.2 DMD Xp21.2 Adrenal hypoplasia congenita Xp21.2 Glycerol kinase Xp22.13 X linked juvenille retinoschisis Xp22.13 X linked spasms/ atypical Rett Xp22.2 Microphthalmia with linear skin defects Xp22.2 Orofaciodigital 1 Xp22.31 Kallmann 1 Xp22.31 Steroid sulfatase Xp22.31 STS Microduplication Xp22.33 SHOX Xq13.1 Opitz - Kaveggia syndrome Xq21.1 MENKES Xq22.1 Deafness-Dystonis-Optic Neuronopathy Xq22.1 X linked agammaglobulinemia Xq22.2 Pelizaeus-Merzbacher disease Xq22.3 Alport syndrome Xq22.3 Opitz Xq22.3-q23 DCX-Associated Lissencephaly/Subcortical Band Heterotopia Xq25 Lowe Xq25 X linked lymphoproliderative syndrome Xq26.2 Lesch-Nyhan Syndrome Xq26.3 X linked heterotaxy Xq27.1 Mental retardation X linked Xq27.3 FMR1 Microdeletion Xq28 Emery-Dreifuss muscular dystrophy Xq28 Retts Xq28 FLNA-Related Disorders Xq28 FMR2 Microdeletion Yp11.31 SRY deletion Yq11.21 AZFa Yq11.22 AZFc Yq11.22-q11.22 AZFb

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