Interstitial deletion of the short arm of chromosome 5 in a mother and three children.
Interstitial deletion of the short arm of chromosome 5 in a mother and three children.
复制标题
DOI:
10.1136/jmg.21.6.465
复制
发表时间:
1984-12
影响因子:
4
通讯作者:
J. L. Walker;C. Blank;B. Smith
中科院分区:
文献类型:
--
作者:
J. L. Walker;C. Blank;B. Smith
An interstitial deletion (5) (p13p15.1) was found in a mentally retarded woman and three of her four children. The variable manifestation of this chromosomal defect and the relevance of this particular deletion to the cri du chat syndrome are discussed. To our knowledge the only other reported case of inherited 5p deletion from an affected parent involved the terminal segment of the 5p15.3 band.