Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter.
case_report · Level V
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- Record sourced from PubMed, PMID 9683597.
- Also identified by PMC identifier 1377307.
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Abstract
Primary (or "true") microcephaly is inherited as an autosomal recessive trait and is thought to be genetically heterogeneous. Using autozygosity mapping, we have identified a genetic locus (MCPH1) for primary microcephaly, at chromosome 8p22-pter, in two consanguineous families of Pakistani origin. Our results indicate that the gene lies within a 13-cM region between the markers D8S1824 and D8S1825 (maximum multipoint LOD score of 8.1 at D8S277). In addition, we have demonstrated the genetic heterogeneity of this condition by analyzing a total of nine consanguineous families with primary microcephaly.
Medical subject headings
- Chromosomes, Human, Pair 8
- Genes, Recessive
- Microcephaly