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Ko, Cho, Lee, Park, Shin, Choi, Lee, Lee, and Paik: Prenatal diagnosis of trisomy 7 mosaicism with omphalocele in the first trimester of pregnancy
Case Report
Korean Journal of Obstetrics & Gynecology

Korean Journal of Obstetrics & Gynecology 2012; 55(10): 751-755.

Published online: 9 October 2012

DOI: https://doi.org/10.5468/KJOG.2012.55.10.751

Prenatal diagnosis of trisomy 7 mosaicism with omphalocele in the first trimester of pregnancy

Min Kyung Ko, MD1, In Ae Cho, MD1, Jae Ik Lee, MS2, Ji Kwon Park, MD1, 3, Jeong Kyu Shin, MD1, 3, Won Jun Choi, MD1, 3, Soon Ae Lee, MD1, 3, Jong Hak Lee, MD1, 3, Won Young Paik, MD1, 3

1Department of Obstetrics and Gynecology, Gyeongsang National University School of Medicine, Jinju, Korea.

2Laboratory of Infertility and Genetics, Gyeongsang National University School of Medicine, Jinju, Korea.

3Gyeongsang Institute of Health Sciences, Gyeongsang National University School of Medicine, Jinju, Korea.

Corresponding author: Won Young Paik, MD. Department of Obstetrics and Gynecology, Gyeongsang National University School of Medicine, 79 Gangnam-ro, Jinju, Korea. Tel: +82-55-750-8152, Fax: +82-55-759-1118, wypaik@gnu.ac.kr

Received 14 May 2012       Revised 21 July 2012       Accepted 24 August 2012

Copyright © 2012. Korean Society of Obstetrics and Gynecology

(open-access):

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

The trisomy 7 is rare autosomal aneuploidy worldwide, which accounts for 4%-10% of all trisomies, and most of the cases are mosaicism. The partial trisomy 7 mosaicism demonstrates facial deformities, short neck, hypotonia, developmental delay, severe growth retardation, renal anomalies, cardiac defect, skeletal anomalies with a wide range of characteristics and severities. The cases of full trisomy 7 are even rarer and the characteristics are not known well. Recently we have experienced a case of full trisomy 7 mosaicism with omphalocele, cleft palate, lower set of ears, single eye, scoliosis, upper limb deformity. It was prenatally diagnosed by chorionic villi sampling based on abnormal ultrasonographic findings at 12 weeks of gestation, using conventional karyotyping and bacterial artificial chromosome array comparative genomic hybridization. We report this case with brief review of literature.

Keywords: Trisomy 7 mosaicism, Omphalocele, Prenatal ultrasonography

Figures and Tables

Fig. 1
(A) Transabdominal ultrasonographic image of the fetus showing omphalocele (arrow). (B) scoliosis (arrows).
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Fig. 2
Karyotype from the fetal cord blood was designated as 47,XY,+7[16] (long term culture). The arrow indicates trisomy 7.
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Fig. 3
Bacterial artificial chromosome array comparative genomic hybridization result revealed duplication of chromosome 7 (arrow).
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Fig. 4
(A) Fetus with omphalocele with herniated liver and bowel. (B) Cleft palate, low-set ears, single eye, upper limb deformity.
kjog-55-751-g004

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