Molecular cytogenetic analysis of a de novo 5q31q33 deletion associated multiple congenital anomalies: Case report

Ralph L. Kramer, Baruch Feldman, Salah A.D. Ebrahim, Stefanie B. Kasperski, Mark P. Johnson, Mark I. Evans

Research output: Contribution to journalArticlepeer-review

15 Scopus citations

Abstract

Interstitial deletions are relatively rare chromosomal anomalies that usually arise de novo. The data describing the phenotype associated with interstitial deletions of 5q are very limited. We describe the first case of multiple fetal anomalies, diagnosed on prenatal sonographic examination, associated with a deletion at 5q31q33. Sonographic examination at 23 weeks' gestation demonstrated growth parameters consistent with 20 weeks' gestation; a 7-mm nuchal fold; a dilated loop of bowel adjacent to the stomach suggestive of duodenal atresia; clubbing of the left foot; a narrow aorta; suspected ventricular septal defect; and placental thickening. The patient delivered a severely growth-restricted fetus and enlarged placenta at 30 weeks' gestation. The infant died neonatally.

Original languageEnglish
Pages (from-to)143-145
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume82
Issue number2
DOIs
StatePublished - 15 Jan 1999
Externally publishedYes

Keywords

  • Congenital anomalies
  • Interstitial deletion of 5q
  • Prenatal diagnosis

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