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

Authors
  • G N Kavaslar
  • S Onengüt
  • O Derman
  • A Kaya
  • A Tolun
Publication Date
Apr 04, 2000
Source
PMC
Keywords
License
Unknown

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.

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