Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome

American Journal of Medical Genetics, Part A

Volumn 146, Issue 14, 2008, Pages 1871-1874

  Bélien, Valérie ^a   Gérard Blanluet, Marion ^a   Serero, Stéphane ^a,b   Le Dû, Nathalie ^b   Baumann, Clarisse ^a   Jacquemont, Marie Line ^a   Dupont, Céline ^a   Krabchi, Kada ^a,c   Drunat, Séverine ^a   Elbez, Annie ^d   Janaud, Jean Claude ^d   Benzacken, Brigitte ^a   Verloes, Alain ^a   Tabet, Anne Claude ^a   Aboura, Azzedine ^a  

^a HÔPITAL ROBERT DEBRÉ   (France)

^b Laboratoire LSP   (France)

^c CENTRE HOSPITALIER UNIVERSITAIRE DE SHERBROOKE   (Canada)

^d CENTRE HOSPITALIER INTERCOMMUNAL DE CRÉTEIL   (France)

Author keywords

Cat eye; Supernumerary marker; TAPVR; Trisomy 22

Indexed keywords

ARTICLE; CASE REPORT; CAT EYE SYNDROME; CHROMOSOME 22Q; CHROMOSOME ANALYSIS; CLINICAL FEATURE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; INTRAUTERINE GROWTH RETARDATION; IRIS COLOBOMA; LUNG VEIN DRAINAGE ANOMALY; MARKER CHROMOSOME; MUSCLE HYPOTONIA; PARTIAL TRISOMY; PARTIAL TRISOMY 22; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SUPERNUMERARY CHROMOSOME; SYMPTOM;

ABNORMALITIES, MULTIPLE; ADULT; ANEUPLOIDY; CHROMOSOMES, HUMAN, PAIR 22; COLOBOMA; FEMALE; FETAL GROWTH RETARDATION; HEART DEFECTS, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; PHENOTYPE; PREGNANCY; PULMONARY VEINS; SYNDROME;

EID: 47349106099     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32392     Document Type: Article

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