与7q21.2-q22.1区域三个微卫星标记缺失相关的裂足与发育迟缓。
Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2-q22.1.
作者信息
Marinoni J C, Stevenson R E, Evans J P, Geshuri D, Phelan M C, Schwartz C E
机构信息
Greenwood Genetic Center, SC 29646, USA.
出版信息
Clin Genet. 1995 Feb;47(2):90-5. doi: 10.1111/j.1399-0004.1995.tb03930.x.
Abstract
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.
摘要
在一名患有裂足和发育迟缓的患者中发现了7号染色体q21.2 - q22.1区域的缺失。使用聚合酶链反应（PCR）进行的分子分析显示，患者父源染色体上的三个微卫星标记D7S527、D7S479和D7S554发生了缺失。这些结果确定了7号染色体上一个ectrodactyly位点（SHFD1）的关键区域。
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