A rare case of trisomy 15pter-q21.2 due to a de novo marker chromosome

American Journal of Medical Genetics, Part A

Volumn 152, Issue 3, 2010, Pages 753-758

  Pacanaro, Ade Nubia Xavier ^a   Christofolini, Denise Maria ^a   Kulikowski, Leslie Domenici ^a,b   Belangero, Sintia Iole Nogueira ^a   Da Silva Bellucco, Fernanda Teixeira ^a   Varela, Monica C ^b   Koiffmann, Celia P ^b   Yoshimoto, Maisa ^c   Squire, Jeremy A ^c   Schiavon, Adriana V ^d   Heck, Benjamin ^d   Melaragno, Maria Isabel ^a  

^a FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^b UNIVERSITY OF SÃO PAULO   (Brazil)

^c PRINCESS MARGARET HOSPITAL   (Canada)

^d Hospital São Camilo Pompéia   (Brazil)

Author keywords

Chromosome 15; Duplication 15pter q21.2; Marker chromosome; Partial trisomy; Trisomy 15q

Indexed keywords

CYTOSINE; GLYCINE;

ARTICLE; BRAIN MALFORMATION; BRAIN REGION; CASE REPORT; CHROMOSOME 15Q; CHROMOSOME ANALYSIS; CYTOGENETICS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HEART DISEASE; HUMAN; INFANT; MARKER CHROMOSOME; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PRIORITY JOURNAL; SUPERNUMERARY CHROMOSOME; TRISOMY; TRISOMY 15;

ABNORMALITIES, MULTIPLE; ACROCALLOSAL SYNDROME; CHROMOSOMES, HUMAN, PAIR 15; DEVELOPMENTAL DISABILITIES; FEMALE; GENETIC MARKERS; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; PHENOTYPE; SEPTUM PELLUCIDUM; SPECTRAL KARYOTYPING; TRISOMY;

EID: 77649220047     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33308     Document Type: Article

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