In:
American Journal of Medical Genetics Part A, Wiley, Vol. 143A, No. 15 ( 2007-08), p. 1692-1698
Abstract:
Patients with distal deletions of chromosome 1q have a recognizable syndrome that includes microcephaly, hypoplasia or agenesis of the corpus callosum, and psychomotor retardation. Although these symptoms have been attributed to deletions of 1q42‐1q44, the minimal chromosomal region involved has not been identified. Using microsatellite and single nucleotide polymorphism (SNP) markers, we have mapped the deleted regions in seven patients with terminal deletions of chromosome 1q to define a 2.0‐Mb microcephaly critical region including the 1q43‐1q44 boundary and no more than 11 genes. © 2007 Wiley‐Liss, Inc.
Type of Medium:
Online Resource
ISSN:
1552-4825
,
1552-4833
DOI:
10.1002/ajmg.a.v143a:15
DOI:
10.1002/ajmg.a.31776
Language:
English
Publisher:
Wiley
Publication Date:
2007
detail.hit.zdb_id:
1493479-6
SSG:
12