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

Balci, SevimEngiz, ÖzlemAktaş, DilekVargel, İbrahimBeksac, M.S.Mrasek, KristinLiehr, T2020-06-252020-06-252006closedAccess1552-4825https://doi.org/10.1002/ajmg.a.31131https://hdl.handle.net/20.500.12587/3606Conference on European Human Genetics -- MAY 07, 2005 -- Prague, CZECH REPUBLICBeksac, Meral/0000-0003-1797-8657; Liehr, Thomas/0000-0003-1672-3054; Beksac, M.Sinan/0000-0001-6362-787XWe 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)(eninfo:eu-repo/semantics/closedAccessring chromosome 4Wolf-Hirschhorn syndrome (WHS)r(4)(iris colobomacleft lip and palatehypospadias and double urethral orificesmidgut malrotationcorpus callosum hypoplasiamulticolor banding (MCB)CGH analysis of chromosome 4Ring chromosome 4 and Wolf-Hirschhorn syndrome (WHS) in a child with multiple anomaliesArticle140A662863210.1002/ajmg.a.311312-s2.0-3364486458916470698Q3WOS:000235816500013Q3