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Obstet Gynecol Sci > Volume 55(10); 2012 > Article
Korean Journal of Obstetrics & Gynecology 2012;55(10):751-755.
DOI: https://doi.org/10.5468/KJOG.2012.55.10.751    Published online October 10, 2012.
Prenatal diagnosis of trisomy 7 mosaicism with omphalocele in the first trimester of pregnancy.
Min Kyung Ko, In Ae Cho, Jae Ik Lee, Ji Kwon Park, Jeong Kyu Shin, Won Jun Choi, Soon Ae Lee, Jong Hak Lee, Won Young Paik
1Department of Obstetrics and Gynecology, Gyeongsang National University School of Medicine, Jinju, Korea. wypaik@gnu.ac.kr
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.
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.
Key Words: Trisomy 7 mosaicism, Omphalocele, Prenatal ultrasonography

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