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Genet Couns ; 18(4): 417-21, 2007.
Article in English | MEDLINE | ID: mdl-18286823

ABSTRACT

We report a male neonate with a 45 X karyotype; the long arm of a chromosome 15 was translocated onto the proximal long arm of the Y chromosome. Breakpoints were identified by in situ fluorescence hybridization (FISH) on the proximal 15q13 and Yq11.2. The derivative chromosome has no primary centromere. Clinical features were compatible with Prader-Willi syndrome. This is the first report case ofmonosomy 15q and Yq deletion with Prader-Willi syndrome.


Subject(s)
Chromosomes, Human, Pair 15/genetics , Chromosomes, Human, X/genetics , Chromosomes, Human, Y/genetics , Prader-Willi Syndrome/genetics , Translocation, Genetic , Cryptorchidism , Gene Deletion , Humans , Infant, Newborn , Infant, Newborn, Diseases , Infant, Premature , Karyotyping , Male , Phenotype
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