Congenital heart defect in sibs with discordant karyotypes

Maria Cristina Digilio, Bruno Marino, Salvatore A. Canepa, Umberto Borzaga, Aldo Giannotti, Bruno Dallapiccola

Research output: Contribution to journalArticlepeer-review


Congenital heart defects (CHDs) are genetically heterogeneous, associated with a variety of genetic conditions. Familial aggregation of CHD in patients with and without Down syndrome is rare. We report on the occurrence of concordant CHD in three sets of sibs with discordant karyotypes. In the first family, atrioventricular canal (AVC) was diagnosed in a chromosomally normal child and in his brother with Down syndrome. In the second family, AVC was associated with trisomy 21 in one sib and with trisomy 18 in the other. In the third family, tetralogy of Fallot was present in one patient with Down syndrome and in his nonsyndromic sister. Although the genetic heterogeneity of Down and non-Down CHD is not disputed, a susceptibility to both euploid and aneuploid CHDs could exist, and common predisposing factors could play a role in both conditions.

Original languageEnglish
Pages (from-to)169-172
Number of pages4
JournalAmerican Journal of Medical Genetics
Issue number2
Publication statusPublished - Nov 2 1998


  • Atrioventricular canal
  • Down syndrome
  • Familial recurrence
  • Tetralogy of Fallot
  • Trisomy 18

ASJC Scopus subject areas

  • Genetics(clinical)


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