Copyright © 2000 The American Society of Human Genetics. All rights reserved.
The American Journal of Human Genetics, Volume 67, Issue 6, 1575-1577, 1 December 2000
doi:10.1086/316909
Report
Primary Autosomal Recessive Microcephaly: MCPH5 Maps to 1q25-q32
C. Ruth Jamieson1, Jean-Pierre Fryns4, Jos Jacobs2, Gert Matthijs4 and Marc J. Abramowicz1, 3, 
, 
1 Laboratoire de Génétique Médicale, ULB, Erasme–Université Libre de Bruxelles, Brussels
2 MPI Molenstede Erasme–Université Libre de Bruxelles, Brussels
3 Service de Génétique Médicale, Hôpital Erasme–Université Libre de Bruxelles, Brussels
4 Centrum voor Menselijke Erfelijkheid, Katholieke Universiteit Leuven, Leuven, Belgium
Address for correspondence and reprints: Dr. Marc J. Abramowicz, Genetics Department, Hôpital Erasme-ULB, 808 Lennik, B-1070 Brussels, BelgiumAbstract
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.
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