Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22

Citation
Ar. Afzal et al., Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22, HUM GENET, 106(3), 2000, pp. 351-354
Citations number
10
Categorie Soggetti
Molecular Biology & Genetics
Journal title
HUMAN GENETICS
ISSN journal
03406717 → ACNP
Volume
106
Issue
3
Year of publication
2000
Pages
351 - 354
Database
ISI
SICI code
0340-6717(200003)106:3<351:LORRST>2.0.ZU;2-J
Abstract
Autosomal recessive Robinow syndrome is a form of mesomelic dwarfism with m ultiple rib and vertebral anomalies. Using autozygosity mapping we have ide ntified a genetic locus (RBNW1) for this syndrome at chromosome 9q22 in sev en consanguineous families from Oman. Our results indicate that the gene li es within a 4 cM region between markers D9S1836 and D9S1803 (maximum multip oint LOD score 12.3). In addition, we have analysed two non-Omani families with autosomal recessive Robinow and found no genetic heterogeneity.