Pseudotrisomy 13 syndrome: use of homozygosity mapping to target candidate genes.

Abstract excerpt

Pseudotrisomy 13 syndrome is characterised by holoprosencephaly with or without polydactyly, but with a normal karyotype. The genetic cause of this syndrome remains unclear, but it is thought to be autosomal recessive. In order to identify possible candidate genes, we identified regions of homozygosity in the DNA of an affected foetus, which was the seventh pregnancy of a healthy non-consanguineous Cook Island...

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• Share to Chromosomes, Human, Pair 13
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