Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 1998 Aug;63(2):541-6.
doi: 10.1086/301966.

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

A P Jackson  1 , D P McHale, D A Campbell, H Jafri, Y Rashid, J Mannan, G Karbani, P Corry, M I Levene, R F Mueller, A F Markham, N J Lench, C G Woods
Affiliations
Case Reports

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

A P Jackson et al. Am J Hum Genet. 1998 Aug.

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.

PubMed Disclaimer

References

    1. Pediatrics. 1967 Mar;39(3):385-92 - PubMed
    1. J Ment Defic Res. 1960 Jun;4:42-7 - PubMed
    1. J Mol Biol. 1986 Jun 20;189(4):617-31 - PubMed
    1. Dev Med Child Neurol. 1987 Apr;29(2):187-9 - PubMed
    1. Science. 1987 Jun 19;236(4808):1567-70 - PubMed

Publication types

Substances

LinkOut - more resources