title: Familial recurrence of nonsyndromic congenital heart defects in first degree relatives of patients with deletion 22q11.2.
abstract: The majority of nonsyndromic congenital heart defects (CHDs) are considered to follow a multifactorial model of inheritance. Multiple family members affected by CHD can occasionally be detected, and the involvement of several genetic loci interacting with environmental factors is suspected to be implicated. The DiGeorge/velo-cardio-facial syndrome related to microdeletion 22q11.2 (del22) is a genetic condition associated with CHD in most of the cases. We report here on five pedigrees of patients with del22, showing occurrence of nonsyndromic CHD in a first-degree relative of the proband case. Familial aggregation of syndromic and nonsyndromic CHD as observed in our series is to be considered as an unusual pattern of recurrence. The interaction between several different genes and environmental factors, a familial susceptibility predisposing to a specific cardiac malformation, or chance association can all be hypothesized searching an explanation for these particular observations.
authors.affiliation: Medical Genetics, Bambino Gesù Hospital, Rome, Italy. digilio@opbg.net
authors.forename: M Cristina
authors.initials: MC
authors.lastname: Digilio
authors.forename: Bruno
authors.initials: B
authors.lastname: Marino
authors.forename: Rossella
authors.initials: R
authors.lastname: Capolino
authors.forename: Adriano
authors.initials: A
authors.lastname: Angioni
authors.forename: Anna
authors.initials: A
authors.lastname: Sarkozy
authors.forename: M Cristina
authors.initials: MC
authors.lastname: Roberti
authors.forename: Emanuela
authors.initials: E
authors.lastname: Conti
authors.forename: Andrea
authors.initials: A
authors.lastname: de Zorzi
authors.forename: Bruno
authors.initials: B
authors.lastname: Dallapiccola
mesh_terms: D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005190:Family; D005192:Family Health; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics* / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D010375:Pedigree