Journal article
Localization of dominantly inherited isolated triphalangeal thumb to chromosomal region 7q36
Journal of orthopaedic research, Vol.18(3), pp.340-344
05/2000
DOI: 10.1002/jor.1100180303
PMID: 10937618
Abstract
Triphalangeal thumb is an autosomal dominantly inherited form of abnormal preaxial skeletal development. In most families, however, the triphalangeal thumb phenotype coexists with a spectrum of limb deformities, including polydactyly and syndactyly. We describe two Iowa kindreds with triphalangeal thumb. In one family, with nine affected members, triphalangeal thumb was the only manifestation of limb deformity. We performed linkage analysis on both pedigrees, demonstrating a maximum LOD score of 6.23 with marker D7S559 on chromosome 7q36. This corresponds to a previous study of a candidate region of 450 kb in which data from several families with preaxial polydactyly were employed. Further analysis of the unique family with isolated triphalangeal thumb in the current study may demonstrate allelic variability of the gene involved in these disorders.
Details
- Title: Subtitle
- Localization of dominantly inherited isolated triphalangeal thumb to chromosomal region 7q36
- Creators
- Matthew B DobbsFrederick R DietzChristina A GurnettJose A MorcuendeCurtis M SteyersJeffrey C Murray
- Resource Type
- Journal article
- Publication Details
- Journal of orthopaedic research, Vol.18(3), pp.340-344
- DOI
- 10.1002/jor.1100180303
- PMID
- 10937618
- NLM abbreviation
- J Orthop Res
- ISSN
- 0736-0266
- eISSN
- 1554-527X
- Publisher
- Wiley Subscription Services, Inc., A Wiley Company; Hoboken
- Number of pages
- 5
- Language
- English
- Date published
- 05/2000
- Academic Unit
- Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Orthopedics and Rehabilitation; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
- Record Identifier
- 9984025372002771
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