Blepharophimosis syndrome is linked to chromosome 3q.
Publication
, Journal Article
Small, KW; Stalvey, M; Fisher, L; Mullen, L; Dickel, C; Beadles, K; Reimer, R; Lessner, A; Lewis, K; Pericak-Vance, MA
Published in: Hum Mol Genet
March 1995
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.
Duke Scholars
Published In
Hum Mol Genet
DOI
ISSN
0964-6906
Publication Date
March 1995
Volume
4
Issue
3
Start / End Page
443 / 448
Location
England
Related Subject Headings
- Pedigree
- Male
- Humans
- Haplotypes
- Genetics & Heredity
- Genetic Markers
- Genetic Linkage
- Female
- DNA, Satellite
- Chromosomes, Human, Pair 3
Citation
APA
Chicago
ICMJE
MLA
NLM
Small, K. W., Stalvey, M., Fisher, L., Mullen, L., Dickel, C., Beadles, K., … Pericak-Vance, M. A. (1995). Blepharophimosis syndrome is linked to chromosome 3q. Hum Mol Genet, 4(3), 443–448. https://doi.org/10.1093/hmg/4.3.443
Small, K. W., M. Stalvey, L. Fisher, L. Mullen, C. Dickel, K. Beadles, R. Reimer, A. Lessner, K. Lewis, and M. A. Pericak-Vance. “Blepharophimosis syndrome is linked to chromosome 3q.” Hum Mol Genet 4, no. 3 (March 1995): 443–48. https://doi.org/10.1093/hmg/4.3.443.
Small KW, Stalvey M, Fisher L, Mullen L, Dickel C, Beadles K, et al. Blepharophimosis syndrome is linked to chromosome 3q. Hum Mol Genet. 1995 Mar;4(3):443–8.
Small, K. W., et al. “Blepharophimosis syndrome is linked to chromosome 3q.” Hum Mol Genet, vol. 4, no. 3, Mar. 1995, pp. 443–48. Pubmed, doi:10.1093/hmg/4.3.443.
Small KW, Stalvey M, Fisher L, Mullen L, Dickel C, Beadles K, Reimer R, Lessner A, Lewis K, Pericak-Vance MA. Blepharophimosis syndrome is linked to chromosome 3q. Hum Mol Genet. 1995 Mar;4(3):443–448.
Published In
Hum Mol Genet
DOI
ISSN
0964-6906
Publication Date
March 1995
Volume
4
Issue
3
Start / End Page
443 / 448
Location
England
Related Subject Headings
- Pedigree
- Male
- Humans
- Haplotypes
- Genetics & Heredity
- Genetic Markers
- Genetic Linkage
- Female
- DNA, Satellite
- Chromosomes, Human, Pair 3