title: A Y/15 translocation in a 45,X male with Prader-Willi syndrome.
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.
authors.affiliation: Department of Pediatrics, Jersey City Medical Center, Jersey City, New Jersey 07302, USA. surasak1@aol.com
authors.forename: S
authors.initials: S
authors.lastname: Puvabanditsin
authors.forename: E
authors.initials: E
authors.lastname: Garrow
authors.forename: S
authors.initials: S
authors.lastname: Razi
authors.forename: A G
authors.initials: AG
authors.lastname: Mohar
authors.forename: J J
authors.initials: JJ
authors.lastname: Tadros
authors.forename: N
authors.initials: N
authors.lastname: Phattraprayoon
authors.forename: P
authors.initials: P
authors.lastname: Patel
mesh_terms: D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D003456:Cryptorchidism; D017353:Gene Deletion; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases; D007234:Infant, Premature; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D011218:Prader-Willi Syndrome / Q000235:genetics*; D014178:Translocation, Genetic