title: A case of dup(3q) syndrome.
abstract: Duplication of 3q is an extremely rare disorder characterized by "intellectual disability, deficiency of growth, broad nasal root and hypertrichosis". Although it is generally accepted that the duplication of the 3q25-qter region corresponds with a characteristic face, there is a debate about the critical region. In this report, we present a case with dup(3q) syndrome with 46,XY,der(7)ins(7;3)(p13; q22.1q26.31) karyotype and discuss the clinical findings.
authors.affiliation: Genetic Diagnostic Center, Tepecik Training and Research Hospital, Izmir, Turkey. draltug@gmail.com
authors.forename: A
authors.initials: A
authors.lastname: Koç
authors.affiliation: Gentest Genetic Diagnostic Center, lzmir, Turkey.
authors.forename: A Yilmaz
authors.initials: AY
authors.lastname: Ekmekci
authors.affiliation: Genetic Diagnostic Center, Tepecik Training and Research Hospital, Izmir, Turkey.
authors.forename: O
authors.initials: O
authors.lastname: Ozer
mesh_terms: D000328:Adult; D025063:Chromosome Disorders / Q000235:genetics / Q000473:pathology*; D058674:Chromosome Duplication / Q000235:genetics*; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D006801:Humans; D059785:Karyotype; D008297:Male; D013577:Syndrome