FISH approach to determine cat eye syndrome chromosome breakpoints of a patient with cat eye syndrome type II

European Journal of Medical Genetics

Volumn 48, Issue 1, 2005, Pages 33-39

  Gentile, M ^a   De Sanctis, S ^b   Cariola, F ^a   Spezzi, T ^c   Di Carlo, A ^a   Tontoli, F ^c   Lista, F ^b   Buonadonna, A L ^a  

^a NATIONAL INSTITUTE FOR DIGESTIVE DISEASES   (Italy)

^b Army Medical and Veterinary Research Center   (Italy)

^c FONDAZIONE POLICLINICO UNIVERSITARIO A GEMELLI IRCCS   (Italy)

Author keywords

22q11.2; Cat eye syndrome; Fluorescent in situ hybridization; Supernumerary marker(22)

Indexed keywords

ADULT; ANORECTAL MALFORMATION; ARTICLE; CASE REPORT; CAT EYE SYNDROME; CHROMOSOME ABERRATION; CHROMOSOME NOR; CLINICAL FEATURE; CLONE; COLOBOMA; CRANIOFACIAL MALFORMATION; CYTOGENETICS; FLUORESCENCE IN SITU HYBRIDIZATION; GENOTYPE; GERM LINE; HUMAN; MALE; MOLECULAR GENETICS; ORTHOPEDICS; PATIENT; PHENOTYPE; PRENATAL PERIOD;

ABNORMALITIES, MULTIPLE; ADULT; ANAL CANAL; CHROMOSOMES, HUMAN, PAIR 22; COLOBOMA; CRANIOFACIAL ABNORMALITIES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE;

FELIS CATUS;

EID: 18844440941     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2005.01.020     Document Type: Article

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