Ring Chromosome 7 Presenting with Intrauterine Growth Restriction and Multiple Anomalies

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,...

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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:
Online Access:http://www.sciencedirect.com/science/article/pii/S1028455909601613
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author Pei-Yin Tsai
Ying-Hui Lin
Chiung-Hsin Chang
Fong-Ming Chang
Pao-Lin Kuo
author_facet Pei-Yin Tsai
Ying-Hui Lin
Chiung-Hsin Chang
Fong-Ming Chang
Pao-Lin Kuo
author_sort Pei-Yin Tsai
collection DOAJ
description 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.
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spelling doaj.art-b8cd19c421ef409290d9f52d40b998942022-12-22T00:52:58ZengElsevierTaiwanese Journal of Obstetrics & Gynecology1028-45592005-09-0144329729910.1016/S1028-4559(09)60161-3Ring Chromosome 7 Presenting with Intrauterine Growth Restriction and Multiple AnomaliesPei-Yin TsaiYing-Hui LinChiung-Hsin ChangFong-Ming ChangPao-Lin KuoObjective: 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.http://www.sciencedirect.com/science/article/pii/S1028455909601613ring chromosome 7intrauterine growth restrictionmulticystic dysplastic kidney
spellingShingle Pei-Yin Tsai
Ying-Hui Lin
Chiung-Hsin Chang
Fong-Ming Chang
Pao-Lin Kuo
Ring Chromosome 7 Presenting with Intrauterine Growth Restriction and Multiple Anomalies
Taiwanese Journal of Obstetrics & Gynecology
ring chromosome 7
intrauterine growth restriction
multicystic dysplastic kidney
title Ring Chromosome 7 Presenting with Intrauterine Growth Restriction and Multiple Anomalies
title_full Ring Chromosome 7 Presenting with Intrauterine Growth Restriction and Multiple Anomalies
title_fullStr Ring Chromosome 7 Presenting with Intrauterine Growth Restriction and Multiple Anomalies
title_full_unstemmed Ring Chromosome 7 Presenting with Intrauterine Growth Restriction and Multiple Anomalies
title_short Ring Chromosome 7 Presenting with Intrauterine Growth Restriction and Multiple Anomalies
title_sort ring chromosome 7 presenting with intrauterine growth restriction and multiple anomalies
topic ring chromosome 7
intrauterine growth restriction
multicystic dysplastic kidney
url http://www.sciencedirect.com/science/article/pii/S1028455909601613
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AT yinghuilin ringchromosome7presentingwithintrauterinegrowthrestrictionandmultipleanomalies
AT chiunghsinchang ringchromosome7presentingwithintrauterinegrowthrestrictionandmultipleanomalies
AT fongmingchang ringchromosome7presentingwithintrauterinegrowthrestrictionandmultipleanomalies
AT paolinkuo ringchromosome7presentingwithintrauterinegrowthrestrictionandmultipleanomalies