Korean J Obstet Gynecol.  2012 Oct;55(10):751-755.

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

• Ko MK
• Cho IA
• Lee JI
• Park JK
• Shin JK
• Choi WJ
• Lee SA
• Lee JH
• Paik WY

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.

Keyword

Trisomy 7 mosaicism; Omphalocele; Prenatal ultrasonography

MeSH Terms

Aneuploidy
Chorionic Villi Sampling
Chromosomes, Artificial, Bacterial
Chromosomes, Human, Pair 7
Cleft Palate
Comparative Genomic Hybridization
Congenital Abnormalities
Ear
Eye
Female
Hernia, Umbilical
Humans
Karyotyping
Mosaicism
Muscle Hypotonia
Neck
Pregnancy
Pregnancy Trimester, First
Prenatal Diagnosis
Scoliosis
Trisomy
Ultrasonography, Prenatal
Uniparental Disomy
Upper Extremity
Chromosomes, Human, Pair 7
Mosaicism
Trisomy
Uniparental Disomy

Figure

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  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.

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