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The novel genetic disorder microhydranencephaly maps to chromosome 16p13.3-12.1.

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.

SUBMITTER: Kavaslar GN

PROVIDER: S-EPMC1378027 | biostudies-other | 2000 May

REPOSITORIES: biostudies-other

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The novel genetic disorder microhydranencephaly maps to chromosome 16p13.3-12.1.

Kavaslar G N GN Onengüt S S Derman O O Kaya A A Tolun A A

American journal of human genetics 20000404 5

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. ...[more]

PMID: 10762554

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