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Ahn HY, Shin JC, Kim YH, et al. 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. J Korean Med Sci. 2005;20(5):895-8doi: 10.3346/jkms.2005.20.5.895.
Ahn, H. Y., Shin, J. C., Kim, Y. H., Ko, H. S., Park, I. Y., Kim, S. J., Rha, J. G., & Kim, S. P. (2005). 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. Journal of Korean medical science, 20(5), 895-8. https://doi.org/10.3346/jkms.2005.20.5.895
Ahn, Hyun Young, et al. "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." Journal of Korean medical science vol. 20,5 (2005): 895-8. doi: https://doi.org/10.3346/jkms.2005.20.5.895
Ahn HY, Shin JC, Kim YH, Ko HS, Park IY, Kim SJ, Rha JG, Kim SP. 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. J Korean Med Sci. 2005 Oct;20(5):895-8. doi: 10.3346/jkms.2005.20.5.895. PMID: 16224171; PMCID: PMC2779294.
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J Korean Med Sci. 2005 Oct;20(5):895-8. doi: 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.

Journal of Korean medical science

Hyun Young Ahn, Jong Chul Shin, Yeon Hee Kim, Hyun Sun Ko, In Yang Park, Sa Jin Kim, Jong Gu Rha, Soo Pyung Kim

Affiliations

  1. Department of Obstetrics and Gynecology, College of Medicine, The Catholic University of Korea, Seoul, Korea.

PMID: 16224171 PMCID: PMC2779294 DOI: 10.3346/jkms.2005.20.5.895

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.

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