title: Prenatal diagnosis of congenital diaphragmatic hernia in a fetus with 46,XY/46,X,-Y,+der(Y)t(Y;1)(q12;q12) mosaicism: a case report.
abstract: Congenital diaphragmatic hernia (CDH) is often associated with major anomalies and chromosomal abnormalities. Chromosomal abnormalities are usually detected in 9.5% to 34% of fetuses with CDH prenatally diagnosed and the defect has also been reported in association with multiple syndromes such as Pallister-Killian syndrome, Fryns syndrome, Di George syndrome and Apert syndrome. Among the chromosomal abnormalities associated with CDH, trisomy 21, 18, and 13 are most common. Association with complex chromosomal aberrations such as mosaicism has also been reported. However, CDH presented in a fetus with Y-autosome translocation is extremely rare. Herein, we reported a case of fetus with 46,XY/46,X,-Y, +der(Y)t(Y;1)(q12;q12) mosaicism who presented with CDH diagnosed by ultrasonography at 19 weeks' gestation.
authors.affiliation: Department of Obstetrics and Gynecology, College of Medicine, The Catholic University of Korea, Seoul, Korea.
authors.forename: Hyun Young
authors.initials: HY
authors.lastname: Ahn
authors.forename: Jong Chul
authors.initials: JC
authors.lastname: Shin
authors.forename: Yeon Hee
authors.initials: YH
authors.lastname: Kim
authors.forename: Hyun Sun
authors.initials: HS
authors.lastname: Ko
authors.forename: In Yang
authors.initials: IY
authors.lastname: Park
authors.forename: Sa Jin
authors.initials: SJ
authors.lastname: Kim
authors.forename: Jong Gu
authors.initials: JG
authors.lastname: Rha
authors.forename: Soo Pyung
authors.initials: SP
authors.lastname: Kim
mesh_terms: D002869:Chromosome Aberrations; D006548:Hernia, Diaphragmatic / Q000175:diagnosis* / Q000235:genetics; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D009030:Mosaicism / Q000196:embryology*; D011296:Prenatal Diagnosis / Q000379:methods*