Ring Chromosome 7 Presenting with Intrauterine Growth Restriction and Multiple Anomalies

• Main Authors: Pei-Yin Tsai, Ying-Hui Lin, Chiung-Hsin Chang, Fong-Ming Chang, Pao-Lin Kuo
• Format: Article
• Language: English
• Published: Elsevier 2005-09-01
• Series: Taiwanese Journal of Obstetrics & Gynecology
• Subjects: ring chromosome 7; intrauterine growth restriction; multicystic dysplastic kidney
• Online Access: http://www.sciencedirect.com/science/article/pii/S1028455909601613

Objective: Ring chromosome 7 is a very rare chromosomal anomaly that may have a grave prognosis. Nevertheless, the clinical features associated with ring chromosome 7 are highly variable. Here, we report a case with ring chromosome 7 and the perinatal findings. Case Report: A 32-year-old, gravida 1, para 0, woman was referred to our hospital because of intrauterine growth restriction (IUGR) and oligohydramnios at 35 weeks of gestation. Prenatal ultrasound revealed a severe IUGR fetus presenting with multicystic kidney, hydronephrosis and oligohydramnios. At parturition, the birth weight of this male infant was 1,720 g, and a battery of anomalies were also noted, including imperforate anus, hypospadia, micropenis, right cryptorchidism, severe IUGR, multiple nevi on the forehead, shoulder and left thigh, brain atrophy, right multicystic kidney, and left mild hydronephrosis. Cytogenetic study from cord blood revealed a ring chromosome 7. Conclusion: Ring chromosome 7 is extremely rare and our case might be the 15th and youngest case in the medical literature. Our case had multicystic kidney and imperforate anus, which have not been reported previously. Prenatal diagnosis of ring chromosome 7 is very difficult. When fetuses present with severe IUGR, oligohydramnios and multicystic kidney, chromosomal aberrations should be kept in mind, and perinatal cytogenetic workup is warranted.