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Title: Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32
Authors: Jamieson, C R ×
Fryns, Jean-Pierre
Jacobs, J
Matthijs, Gert
Abramowicz, M J #
Issue Date: Dec-2000
Series Title: American Journal of Human Genetics vol:67 issue:6 pages:1575-7
Abstract: Primary microcephaly is thought to result from genetic defects of the developmental program that generates large brain hemispheres in humans. Autosomal recessive inheritance is likely in most familial cases, and four loci were recently mapped by homozygosity. We report homozygosity mapping of a new locus, MCPH5, with a maximum multipoint LOD score of 3.51 at marker D1S1723, in a family of Turkish origin. The minimal critical region spans 11.4 cM between markers D1S384 and D1S2655, at 1q25-q32, and encompasses the cytogenetic breakpoints of chromosomal aberrations previously reported in unrelated patients with microcephaly.
ISSN: 0002-9297
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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