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 journalArticle

18 Citations (Scopus)

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

Fingerprint

Heterotaxy Syndrome
Congenital Heart Defects
Chromosomes, Human, Pair 18

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Heterotaxy with left atrial isomerism in a patient with deletion 18p. / Digilio, Maria Cristina; Marino, Bruno; Giannotti, Aldo; Donato, Roberto Di; Dallapiccola, Bruno.

In: American Journal of Medical Genetics, Vol. 94, No. 3, 18.09.2000, p. 198-200.

Research output: Contribution to journalArticle

Digilio, Maria Cristina ; Marino, Bruno ; Giannotti, Aldo ; Donato, Roberto Di ; Dallapiccola, Bruno. / Heterotaxy with left atrial isomerism in a patient with deletion 18p. In: American Journal of Medical Genetics. 2000 ; Vol. 94, No. 3. pp. 198-200.
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