J Korean Med Sci.  2005 Oct;20(5):895-898. 10.3346/jkms.2005.20.5.895.

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

  • 1Department of Obstetrics and Gynecology, College of Medicine, The Catholic University of Korea, Seoul, Korea. jcshin@catholic.ac.kr


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.


Hernia, Diaphragmatic; Translocation, Genetics; Mosaicism; Prenatal Diagnosis
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