Heterotaxy with left atrial isomerism in a patient with deletion 18p

Maria Cristina Digilio, Bruno Marino, Aldo Giannotti, Roberto Di Donato, Bruno Dallapiccola

Research output: Contribution to journalArticlepeer-review

Abstract

We report on a female infant with partial deletion of the short arm of chromosome 18 (del 18p) and heterotaxy with left atrial isomerism. Congenital heart defect (CHD) is found in 10% of the literature reports. Interestingly, situs abnormalities have been diagnosed in four patients with del 18p, including ours. This finding could imply that a locus or loci involved in the development of normal body situs lies within this chromosomal region. Del 18p must be considered when evaluating a patient with phenotypic anomalies and CHD in lateralization defects. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish
Pages (from-to)198-200
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume94
Issue number3
DOIs
Publication statusPublished - Sep 18 2000

Keywords

  • Congenital heart defect
  • Deletion 18p
  • Heterotaxy
  • Lateralization defect
  • Situs viscerum abnormalities

ASJC Scopus subject areas

  • Genetics(clinical)

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