Premium
Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2‐q22.1
Author(s) -
Marii JeanChristophe,
Stevenson Roger E.,
Evans James P.,
Geshuri Dorrit,
Phelan Mary C.,
Schwartz Charles E.
Publication year - 1995
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1995.tb03930.x
Subject(s) - ectrodactyly , microsatellite , locus (genetics) , polymerase chain reaction , genetics , biology , chromosome , allele , gene , ectodermal dysplasia
A deletion of 7q21.2‐q22.1 has been found in a patient with split foot and developmental retardation. Molecular analysis using polymerase chain reaction (PCR) showed deletion of three microsatellite markers, D7S527, D7S479 and D7S554, in the patient's paternal chromosome. These results pinpoint the critical region for an ectrodactyly locus (SHFD1) on chromosome 7.