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. (C) 1998 Wiley-Liss, Inc.

Congenital heart defect in sibs with discordant karyotypes / M. C., Digilio; MARINO TAUSSIG DE BODONIA, Bruno; S. A., Capena; U., Borzaga; A., Giannotti; B., Dallapiccola. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. - ISSN 0148-7299. - 80:2(1998), pp. 169-172. [10.1002/(sici)1096-8628(19981102)80:2<169::aid-ajmg15>3.0.co;2-e]

Congenital heart defect in sibs with discordant karyotypes

MARINO TAUSSIG DE BODONIA, Bruno;
1998

Abstract

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. (C) 1998 Wiley-Liss, Inc.
1998
atrioventricular canal; down syndrome; familial recurrence; tetralogy of fallot; trisomy 18
01 Pubblicazione su rivista::01a Articolo in rivista
Congenital heart defect in sibs with discordant karyotypes / M. C., Digilio; MARINO TAUSSIG DE BODONIA, Bruno; S. A., Capena; U., Borzaga; A., Giannotti; B., Dallapiccola. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. - ISSN 0148-7299. - 80:2(1998), pp. 169-172. [10.1002/(sici)1096-8628(19981102)80:2<169::aid-ajmg15>3.0.co;2-e]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/113264
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