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The Novel Genetic Disorder Microhydranencephaly Maps to Chromosome 16p13.3-12.1

By Gül Nihan Kavaslar, Suna Önengüt, Orhan Derman, Ahmet Kaya and Aslıhan Tolun

Abstract

We studied a large consanguineous Anatolian family with children who exhibited hydranencephaly associated with microcephaly. The children were severely affected. This novel genetic disorder is autosomal recessive. We used autozygosity mapping to identify a locus at chromosome 16p13.3-12.1; it has a LOD score of 4.11. The gene locus is within a maximal 11-cM interval between markers D16S497 and D16S672 and within a minimal critical region of 8 cM between markers D16S748 and D16S490

Publisher: The American Society of Human Genetics. Published by Elsevier Inc.
Year: 2000
DOI identifier: 10.1086/302898
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