The novel genetic disorder microhydranencephaly maps to chromosome 16p13.3-12.1

Authors
Kavaslar, GN Onengut, S Derman, O Kaya, A Tolun, A
Citation
Gn. Kavaslar et al., The novel genetic disorder microhydranencephaly maps to chromosome 16p13.3-12.1, AM J HU GEN, 66(5), 2000, pp. 1705-1709
Citations number
12
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF HUMAN GENETICS
ISSN journal
00029297 → ACNP
Volume
66
Issue
5
Year of publication
2000
Pages
1705 - 1709
Database
ISI
SICI code
0002-9297(200005)66:5<1705:TNGDMM>2.0.ZU;2-6
Abstract
We studied a large consanguineous Anatolian family with children who exhibi ted hydranencephaly associated with microcephaly. The children were severel y affected. This novel genetic disorder is autosomal recessive. We used aut ozygosity mapping to identify a locus at chromosome 16p13.3-12.1; it has a LOD score of 4.11. The gene locus is within a maximal 11-cM interval betwee n markers D16S497 and D16S672 and within a minimal critical region of 8 cM between markers D16S748 and D16S490.