title: Partial trisomy 3q in a child with sacrococcygeal teratoma and Cornelia de Lange syndrome phenotype.
abstract: Partial duplication of 3q is a rare chromosomal disorder that leads to multiple congenital abnormalities such as growth retardation, microcephaly and characteristic facial features. Although the phenotype of the patient has similarities with Cornelia de Lange Syndrome they are etiologically different. We report here a 9 months old baby boy with partial duplication of 3q and features similar with Cornelia De Lange syndrome. Conventional cytogenetic analysis revealed a derivative chromosome 21. In order to determine the origin of this chromosome region we used subtelomeric FISH technique. Based on the results of all these cytogenetic studies and the physical examinations, the diagnosis is partial 3q duplication.
authors.affiliation: Erciyes University, Medical Faculty, Department of Medical Genetics, Kayseri, Turkey. munisdundar@gmail.com
authors.forename: M
authors.initials: M
authors.lastname: Dundar
authors.forename: A
authors.initials: A
authors.lastname: Uzak
authors.forename: M
authors.initials: M
authors.lastname: Erdogan
authors.forename: C
authors.initials: C
authors.lastname: Saatci
authors.forename: S
authors.initials: S
authors.lastname: Akdeniz
authors.forename: G
authors.initials: G
authors.lastname: Luleci
authors.forename: I
authors.initials: I
authors.lastname: Keser
authors.forename: S
authors.initials: S
authors.lastname: Karauzum
mesh_terms: D002893:Chromosomes, Human, Pair 3; D003635:De Lange Syndrome / Q000175:diagnosis* / Q000235:genetics*; D003937:Diagnosis, Differential; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D010641:Phenotype; D012445:Sacrococcygeal Region / Q000002:abnormalities*; D013724:Teratoma / Q000175:diagnosis / Q000235:genetics*; D014314:Trisomy