Wide clinical variability in cat eye syndrome patients: Four non-related patients and three patients from the same family

Cytogenetic and Genome Research

Volumn 138, Issue 1, 2012, Pages 5-10

  Belangero, S I ^a   Pacanaro, A N X ^a   Bellucco, F T ^a   Christofolini, D M ^a,b   Kulikowski, L D ^a,c   Guilherme, R S ^a   Bortolai, A ^a,d   Dutra, A R N ^a   Piazzon, F B ^c   Cernach, M C ^a   Melaragno, M I ^a  

^a FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^b FACULDADE DE MEDICINA DO ABC   (Brazil)

^c UNIVERSITY OF SÃO PAULO   (Brazil)

^d HOSPITAL DO SERVIDOR PÚBLICO ESTADUAL DE SÃO PAULO   (Brazil)

Author keywords

Cat eye syndrome; Chromosome 22; Marker chromosome; Small supernumerary marker chromosome

Indexed keywords

ADULT; ARTICLE; CAT EYE SYNDROME; CHILD; CHROMOSOME 22; CHROMOSOME 22P; CHROMOSOME ABERRATION; CLINICAL ARTICLE; CYTOGENETICS; EYE DISEASE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLOW UP; HUMAN; INFANT; MALE; MARKER CHROMOSOME; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SMALL SUPERNUMERARY MARKER CHROMOSOME; TETRASOMY;

ADULT; ANEUPLOIDY; CHILD; CHILD, PRESCHOOL; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 22; EPIGENESIS, GENETIC; FEMALE; FOLLOW-UP STUDIES; GENE DOSAGE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; MALE; YOUNG ADULT;

EID: 84866556345     PISSN: 14248581     EISSN: 1424859X     Source Type: Journal    
DOI: 10.1159/000341570     Document Type: Article

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