Ring chromosome 4 and Wolf-Hirschhorn syndrome (WHS) in a child with multiple anomalies

Conference on European Human Genetics -- MAY 07, 2005 -- Prague, CZECH REPUBLICBeksac, Meral/0000-0003-1797-8657; Liehr, Thomas/0000-0003-1672-3054; Beksac, M.Sinan/0000-0001-6362-787XWOS: 000235816500013PubMed: 16470698We report on a 16-month-old male patient with ring chromosome 4 and deletion of Wolf-Hirschhorn syndrome (WHS) region with multiple congenital anomalies including unilateral cleft lip and palate, iris coloboma, microcephaly, midgut malrotation, hypospadias, and double urethral orifices. Peripheral chromosome analysis of the patient showed 46,XY,r(4)(p16.3q35) de novo. Multicolor fluorescence in situ hybridization (FISH) study was also performed and according to multicolor banding (MCB) a r(4)