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Am J Hum Genet. 1998 Aug;63(2):541-6.

Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter.

Author information

1
Molecular Medicine Unit, St.James's University Hospital, Leeds LS9 7TF, United Kingdom. medapj@leeds.ac.uk

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.

PMID:
9683597
PMCID:
PMC1377307
DOI:
10.1086/301966
[Indexed for MEDLINE]
Free PMC Article

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