Puvabanditsin S, Garrow E, Razi S, Mohar A G, Tadros J J, Phattraprayoon N, Patel P
Department of Pediatrics, Jersey City Medical Center, Jersey City, New Jersey 07302, USA.
Genet Couns. 2007;18(4):417-21.
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.