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Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1993 Nov;30(11):970–971. doi: 10.1136/jmg.30.11.970

Pseudotrisomy 13 and autosomal recessive holoprosencephaly.

M J Seller 1, L S Chitty 1, H Dunbar 1
PMCID: PMC1016613  PMID: 8301659

Abstract

Two sibs, diagnosed prenatally, had holoprosencephaly, midface hypoplasia, and normal chromosomes. The first fetus also had polydactyly. This sibship may represent an example of autosomal recessive pseudotrisomy 13.

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Selected References

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