Blepharophimosis syndrome is linked to chromosome 3q.
Published
Journal Article
Blepharophimosis syndrome (BPES, blepharophimosis eyelid syndrome) is a distinctive congenital eyelid malformation which can occur sporadically or be inherited in an autosomal dominant fashion. Previous reports have described associated cytogenetic abnormalities on chromosome 3q. We have ascertained and sampled two BPES families with apparent autosomal dominant inheritance and have tested for linkage with 17 polymorphic markers on 3q. Multipoint analysis generated a maximum LOD score of 3.23 using the markers RHO, ACPP and D3S1238. No evidence of genetic heterogeneity was observed. These studies provide the first non-cytogenetic evidence that a defective gene responsible for BPES is located on 3q22.
Full Text
Duke Authors
Cited Authors
- Small, KW; Stalvey, M; Fisher, L; Mullen, L; Dickel, C; Beadles, K; Reimer, R; Lessner, A; Lewis, K; Pericak-Vance, MA
Published Date
- March 1995
Published In
Volume / Issue
- 4 / 3
Start / End Page
- 443 - 448
PubMed ID
- 7795600
Pubmed Central ID
- 7795600
International Standard Serial Number (ISSN)
- 0964-6906
Digital Object Identifier (DOI)
- 10.1093/hmg/4.3.443
Language
- eng
Conference Location
- England