TY - JOUR
T1 - Localization of the Gene (SYM1) for Proximal Symphalangism to Human Chromosome 17q21-q22
AU - Polymeropoulos, Mihael H.
AU - Poush, Jamie
AU - Rubenstein, Jeffrey R.
AU - Francomano, Clair A.
PY - 1995/5/20
Y1 - 1995/5/20
N2 - 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.
AB - 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.
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U2 - 10.1006/geno.1995.1035
DO - 10.1006/geno.1995.1035
M3 - Article
C2 - 7557985
AN - SCOPUS:0028998774
SN - 0888-7543
VL - 27
SP - 225
EP - 229
JO - Genomics
JF - Genomics
IS - 2
ER -