Recurrence of Pallister-Hall syndrome in two sibs.

AUTOR(ES)

Thomas, H M

RESUMO

We report the first definite sib recurrence of Pallister-Hall syndrome in a family without a cytogenetically visible chromosome abnormality. The father of these two sibs was born with nearly identical digital abnormalities and could represent either mild expression or gonosomal mosaicism for a dominant gene.

Documentos Relacionados

• Pallister-Hall syndrome.
• The Pallister-Hall syndrome.
• Familial Pallister-Hall syndrome.
• Pallister-Hall syndrome and McKusick-Kaufmann syndrome: one entity?
• Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome.