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Clin Dysmorphol. 2000 Apr;9(2):115-8.

Pseudotrisomy 13 syndrome in siblings.

Author information

  • 1Victorian Clinical Genetics Service, Royal Children's Hospital, Parkville, Australia. amord@cryptic.rch.unimelb.edu.au

Abstract

We describe a brother and sister who both had holoprosencephaly, polydactyly, cardiac lesions and a normal karyotype. The parents were first cousins and a diagnosis of pseudotrisomy 13 syndrome is suggested. This report provides further support that the inheritance of pseudotrisomy 13 syndrome is autosomal recessive.

PMID:
10826623
[PubMed - indexed for MEDLINE]
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