Localization of the Gene (SYM1) for Proximal Symphalangism to Human Chromosome 17q21-q22

Mihael H. Polymeropoulos, Jamie Poush, Jeffrey R. Rubenstein, Clair A. Francomano

Research output: Contribution to journalArticlepeer-review

Abstract

Proximal symphalangism, or Cushing symphalangism (MIM 185800), is an autosomal dominant disorder characterized by ankylosis of the proximal interphalangeal joints. Conductive deafness and reduced flexibility of the ankles have also been observed in affected individuals. We have used polymorphic markers throughout the genome to perform genetic linkage analysis in subsequent generations of the family originally described by Harvey Cushing. We have established linkage for this disorder to markers on chromosome 17 (17q21-q22), with Zmax = 6.98 at θ = 0.05 with marker D17S790.

Original languageEnglish (US)
Pages (from-to)225-229
Number of pages5
JournalGenomics
Volume27
Issue number2
DOIs
StatePublished - May 20 1995

ASJC Scopus subject areas

  • Genetics

Fingerprint Dive into the research topics of 'Localization of the Gene (SYM1) for Proximal Symphalangism to Human Chromosome 17q21-q22'. Together they form a unique fingerprint.

Cite this