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Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
The novel genetic disorder microhydranencephaly maps to chromosome 16p13.3-12.1
G N Kavaslar1, S Onengüt, O Derman
1Department of Molecular Biology and Genetics, Boğaziçi University, Bebek 80815, Istanbul, Turkey.
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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