Journal List > Korean J Obstet Gynecol > v.55(10) > 1088530

Ko, Cho, Lee, Park, Shin, Choi, Lee, Lee, and Paik: Prenatal diagnosis of trisomy 7 mosaicism with omphalocele in the first trimester of pregnancy


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.

Figures and Tables

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


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