Recurrence of Pallister-Hall syndrome in two sibs
1Respiratory Unit, Royal Liverpool Children's Hospital, Alder Hey, UK.
Journal of Medical Genetics
|February 1, 1994
Abstract:
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.
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