A new case of a severe clinical phenotype of the cat-eye syndrome

Genetic Counseling

Volumn 15, Issue 4, 2004, Pages 443-448

  Denavit, Tanguy Martin ^a   Malan, V ^a   Grillon, C ^b   Sanlaville, D ^a   Ardalan, A ^a   Jacquemont, M I ^a   Burglen, L ^b   Taillemite, J L ^a   Portnoï, Marie France ^a  

^a HÔPITAL SAINT ANTOINE   (France)

^b ARMAND TROUSSEAU HOSPITAL   (France)

Author keywords

Cat eye syndrome; CES phenotype; Inv dup(22); Supernumerary marker

Indexed keywords

ANUS DISEASE; ARTICLE; CASE REPORT; CAT EYE SYNDROME; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CHROMOSOME INVERSION; CHROMOSOME SATELLITE; COLOBOMA; CRANIOFACIAL MALFORMATION; EXTERNAL EAR MALFORMATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; INFANT; KARYOTYPE; PHYSICAL EXAMINATION; SYNDROME;

ANAL CANAL; BRADYCARDIA; CHROMOSOMES, HUMAN, PAIR 22; COLOBOMA; CONSTRICTION, PATHOLOGIC; CRANIOFACIAL ABNORMALITIES; CYTOGENETICS; EAR; FATAL OUTCOME; FEMALE; GENE DUPLICATION; GENETIC COUNSELING; GENETIC MARKERS; HEART FAILURE, CONGESTIVE; HUMANS; HYPERTELORISM; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; KARYOTYPING; MICROCEPHALY; PHENOTYPE; SEVERITY OF ILLNESS INDEX; SYNDROME;

FELIS CATUS;

EID: 11144273144     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (18)

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