De novo duplication and deletions at 7q in a three-generation family.

Isidor, Bertrand; Villa, Olaya; Pichon, Olivier; Briand, Annaig; Poulain, Damien; Boisseau, Pierre; Pérez-Jurado, Luis Alberto; Le Caignec, Cédric

Isidor, Bertrand; Villa, Olaya; Pichon, Olivier; Briand, Annaig; Poulain, Damien; Boisseau, Pierre; Pérez-Jurado, Luis Alberto; Le Caignec, Cédric.

Affiliation

Isidor B; CHU de Nantes, Service de Génétique Médicale, Nantes, France.

Am J Med Genet A ; 158A(6): 1493-7, 2012 Jun.

Article in En | MEDLINE | ID: mdl-22577094

Subject(s)

Chromosome Deletion; Chromosomes, Human, Pair 7; Trisomy; Child; Comparative Genomic Hybridization; Facies; Family; Female; Humans; In Situ Hybridization, Fluorescence; Karyotype; Male; Pedigree

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Trisomy / Chromosomes, Human, Pair 7 / Chromosome Deletion Limits: Child / Female / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2012 Type: Article Affiliation country: France

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