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Family pedigree analysis of children with severe breath-holding spells.
DiMario, F J; Sarfarazi, M.
Afiliação
  • DiMario FJ; Department of Pediatrics, Connecticut Children's Medical Center, Hartford 06106, USA.
J Pediatr ; 130(4): 647-51, 1997 Apr.
Article em En | MEDLINE | ID: mdl-9108865
We examined family pedigrees of children with severe breath-holding spells (SBHS). There were 57 probands (27 males, 30 females; 44 cyanotic, 13 pallid) whose families comprised 1683 individuals. We found that 31 (27%) of 114 proband parents and 9 (21%) of 43 proband siblings had current or prior SBHS. Father-to-son transmission was observed in 7 instances. There were 7 families with 2 or more affected siblings and 5 families with 3 or more affected members. From 85 nuclear families, 130 individuals had current or prior SBHS (59 males, 71 females; male/female ratio, 1:12). These data suggest that the most likely underlying genetic inheritance pattern in SBHS is an autosomal dominant trait with reduced penetrance.
Assuntos
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Apneia Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Pediatr Ano de publicação: 1997 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos
Buscar no Google
Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Apneia Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Pediatr Ano de publicação: 1997 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos