The novel genetic disorder microhydranencephaly maps to chromosome 16p13.3-12.1.
case_report · Level V
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- Record sourced from PubMed, PMID 10762554.
- Also identified by PMC identifier 1378027.
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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.
Medical subject headings
- Abnormalities, Multiple
- Chromosomes, Human, Pair 16
- Hydranencephaly
- Microcephaly