Blepharophimosis syndrome is linked to chromosome 3q

K. W. Small, M. Stalvey, L. Fisher, L. Mullen, C. Dickel, K. Beadles, R. Reimer, A. Lessner, K. Lewis, Margaret A Pericak-Vance

Research output: Contribution to journalArticle

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Abstract

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.

Original languageEnglish
Pages (from-to)443-448
Number of pages6
JournalHuman Molecular Genetics
Volume4
Issue number3
StatePublished - Jan 1 1995
Externally publishedYes

Fingerprint

Eyelids
Chromosomes
Chromosome
Genes
Linkage
Gene
Genetic Heterogeneity
Chromosome Aberrations
Blepharophimosis, Ptosis, and Epicanthus Inversus
Evidence
Family

ASJC Scopus subject areas

  • Genetics
  • Statistics, Probability and Uncertainty
  • Applied Mathematics
  • Public Health, Environmental and Occupational Health
  • Molecular Biology
  • Genetics(clinical)

Cite this

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. Human Molecular Genetics, 4(3), 443-448.

Blepharophimosis syndrome is linked to chromosome 3q. / Small, K. W.; Stalvey, M.; Fisher, L.; Mullen, L.; Dickel, C.; Beadles, K.; Reimer, R.; Lessner, A.; Lewis, K.; Pericak-Vance, Margaret A.

In: Human Molecular Genetics, Vol. 4, No. 3, 01.01.1995, p. 443-448.

Research output: Contribution to journalArticle

Small, KW, Stalvey, M, Fisher, L, Mullen, L, Dickel, C, Beadles, K, Reimer, R, Lessner, A, Lewis, K & Pericak-Vance, MA 1995, 'Blepharophimosis syndrome is linked to chromosome 3q', Human Molecular Genetics, vol. 4, no. 3, pp. 443-448.
Small KW, Stalvey M, Fisher L, Mullen L, Dickel C, Beadles K et al. Blepharophimosis syndrome is linked to chromosome 3q. Human Molecular Genetics. 1995 Jan 1;4(3):443-448.
Small, K. W. ; Stalvey, M. ; Fisher, L. ; Mullen, L. ; Dickel, C. ; Beadles, K. ; Reimer, R. ; Lessner, A. ; Lewis, K. ; Pericak-Vance, Margaret A. / Blepharophimosis syndrome is linked to chromosome 3q. In: Human Molecular Genetics. 1995 ; Vol. 4, No. 3. pp. 443-448.
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