Hydrocephaly, penoscrotal transposition, and digital anomalies associated with de novo pseudodicentric rearranged chromosome 13 characterized by classical cytogenetic methods and mBAND analysis

American Journal of Medical Genetics, Part A

Volumn 140, Issue 12, 2006, Pages 1321-1325

  Christofolini, Denise Maria ^a   Yoshimoto, Maisa ^b   Squire, Jeremy A ^b   Brunoni, Décio ^a   Melaragno, Maria Isabel ^a   Carvalheira, Gianna ^a  

^a FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^b UNIVERSITY OF TORONTO   (Canada)

Author keywords

C banding; mBAND cytoband painting; Monosomy 13q32 qter; NOR staining; Penoscrotal transposition

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 13; CHROMOSOME 13Q; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME BANDING PATTERN; CHROMOSOME REARRANGEMENT; CLINICAL FEATURE; CONGENITAL HYDROCEPHALUS; DISEASE SEVERITY; FINGER MALFORMATION; GENITAL MALFORMATION; HUMAN; INFANT; KARYOTYPE 46,XY; MALE; PARTIAL MONOSOMY; PENOSCROTAL TRANSPOSITION; PRIORITY JOURNAL; SISTER CHROMATID;

ABNORMALITIES, MULTIPLE; CHROMOSOME BREAKAGE; CHROMOSOMES, HUMAN, PAIR 13; CYTOGENETIC ANALYSIS; FINGERS; GENE DELETION; GENE DUPLICATION; HUMANS; HYDROCEPHALUS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; MALE; MONOSOMY; NUCLEOLUS ORGANIZER REGION; SILVER STAINING; TOES; TOMOGRAPHY, X-RAY COMPUTED; UROGENITAL ABNORMALITIES;

EID: 33744830842     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31269     Document Type: Article

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