Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22
Afzal, A.R. ; Rajab, A. ; Fenske, C. ; Crosby, A. ; Lahiri, N. ; Ternes-Pereira, E. ; Murday, V.A. ; Houlston, R. ; Patton, M.A. ; Jeffery, S.
Springer
Published 2000
Springer
Published 2000
| ISSN: |
1432-1203
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|---|---|
| Source: |
Springer Online Journal Archives 1860-2000
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| Topics: |
Biology
Medicine
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| Notes: |
Abstract. Autosomal recessive Robinow syndrome is a form of mesomelic dwarfism with multiple rib and vertebral anomalies. Using autozygosity mapping we have identified a genetic locus (RBNW1) for this syndrome at chromosome 9q22 in seven consanguineous families from Oman. Our results indicate that the gene lies within a 4 cM region between markers D9S1836 and D9S1803 (maximum multipoint LOD score 12.3). In addition, we have analysed two non-Omani families with autosomal recessive Robinow and found no genetic heterogeneity.
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| Type of Medium: |
Electronic Resource
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| URL: |