The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1–13.2

Male 0301 basic medicine Adolescent Genetic Linkage Homozygote Chromosome Mapping Genes, Recessive 03 medical and health sciences Microcephaly Humans Family Chromosomes, Human, Pair 19
DOI: 10.1038/sj.ejhg.5200385 Publication Date: 2003-12-09T18:11:00Z
ABSTRACT
Primary microcephaly is a clinical diagnosis made when an individual has a head circumference of greater than 3 standard deviations below the age and sex matched population mean, mental retardation but without other associated malformations and no apparent aetiology. The majority of cases of primary microcephaly exhibit an autosomal recessive mode of inheritance. We now demonstrate the genetic heterogeneity of this condition with the identification of a second primary microcephaly locus (MCPH2) on chromosome 19q13.1-13.2 in two multi-affected consanguineous families. The minimum critical region containing the MCPH2 locus is defined by the polymorphic markers D19S416 and D19S420 spanning a region of approximately 7.6 cM.
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