Molecular cytogenetic characterization of an 8p22-8p23.2 duplication derived from a maternal intrachromosomal insertion in a child with congenital heart malformation, delayed puberty, and learning disabilities

American Journal of Medical Genetics, Part A

Volumn 146, Issue 22, 2008, Pages 2950-2954

  Basinko, Audrey ^a,b   Douet Guilbert, Nathalie ^a,b   Le Bris, Marie Josée Le ^b   Parent, Philippe ^b   Ansquer, Hélène ^b   Morel, Frédéric ^a,b   De Braekeleer, Marc ^a,b  

^a FACULTÉ DE MÉDECINE ET DES SCIENCES DE LA SANTÉ   (France)

^b CHU MORVAN   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CHILD; CHROMOSOME 8P; CHROMOSOME INSERTION; CHROMOSOME REARRANGEMENT; CONGENITAL HEART MALFORMATION; DELAYED PUBERTY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HEART DEVELOPMENT; HUMAN; LEARNING DISORDER; LETTER; MOTHER; PRIORITY JOURNAL;

CHILD; CHROMOSOME ABERRATIONS; CHROMOSOMES, ARTIFICIAL, BACTERIAL; CHROMOSOMES, HUMAN, PAIR 8; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; LEARNING DISORDERS; PUBERTY, DELAYED; YOUNG ADULT;

EID: 56049099330     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32522     Document Type: Letter

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