Please use this identifier to cite or link to this item: http://hdl.handle.net/1959.14/186680
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- Title
- Linkage of preaxial polydactyly type 2 to 7q36
- Related
- American journal of medical genetics. Part A, Vol. 58, Issue 2, (1995), p.128-135
- DOI
- 10.1002/ajmg.1320580208
- Publisher
- John Wiley & Sons
- Date
- 1995
- Author/Creator
- Hing, Anne V
- Author/Creator
- Helms, Cynthia
- Author/Creator
- Slaugh, Rachel
- Author/Creator
- Burgess, Andrea
- Author/Creator
- Wang, Jen C
- Author/Creator
- Herman, Thomas
- Author/Creator
- Dowton, S. Bruce
- Author/Creator
- Donis-Keller, Helen
- Description
- We have characterized a 6-generation North American Caucasian kindred segregating one form of preaxial polydactyly type 2 (PPD-2). We demonstrate linkage to the 7q36 region and describe a submicroscopic telomeric chromosomal deletion in phase with the PPD-2 phenotype. Recently, several kindreds segregating triphalangeal thumb (TPT) with and without associated hand anomalies (syndactyly and/or postaxial polydactyly)have also been linked to the subtelomeric region of chromosome 7q [Heutink et al., 1994: Nat Genet 6:287-291; Tsukurov et al., 1994: Nat Genet 6:282-286]. We demonstrate by haplotype analysis that our North American pedigree represents a PPD allele that is independent of the founder PPD allele present in the previously described kindreds.
- Description
- 8 page(s)
- Subject Keyword
- chromosome 7q36
- Subject Keyword
- duplicated thumb
- Subject Keyword
- limb development
- Subject Keyword
- preaxial polydactyly
- Subject Keyword
- triphalangeal thumb
- Resource Type
- journal article
- Organisation
- Macquarie University. Office of the Vice-Chancellor
- Identifier
- http://hdl.handle.net/1959.14/186680
- Identifier
- ISSN:1552-4833
- Identifier
- mq_res-ext-2-s2.0-0029059780
- Language
- eng
- Reviewed
