Ring chromosome 7 presenting with intrauterine growth restriction and multiple anomalies

Py Tsai, Ying Hui Lin, Chiung-Hsin Chang, Fong Ming Chang, Pao-Lin Kuo

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)297-299
Number of pages3
JournalTaiwanese Journal of Obstetrics and Gynecology
Volume44
Issue number3
DOIs
Publication statusPublished - 2005 Jan 1

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Multicystic Dysplastic Kidney
Oligohydramnios
Growth
Imperforate Anus
Hydronephrosis
Cytogenetics
Fetus
Cryptorchidism
Forehead
Nevus
Thigh
Prenatal Diagnosis
Fetal Blood
Birth Weight
Chromosome Aberrations
Atrophy
Chromosome 7 ring syndrome
Parturition
Pregnancy
Brain

All Science Journal Classification (ASJC) codes

  • Obstetrics and Gynaecology

Cite this

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title = "Ring chromosome 7 presenting with intrauterine growth restriction and multiple anomalies",
abstract = "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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Ring chromosome 7 presenting with intrauterine growth restriction and multiple anomalies. / Tsai, Py; Lin, Ying Hui; Chang, Chiung-Hsin; Chang, Fong Ming; Kuo, Pao-Lin.

In: Taiwanese Journal of Obstetrics and Gynecology, Vol. 44, No. 3, 01.01.2005, p. 297-299.

Research output: Contribution to journalArticle

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