关于4p16缺失的沃尔夫-赫希霍恩综合征。
On the deletion 4p16 Wolf-Hirschhorn syndrome.
作者信息
Rivas F, Hernandez A, Nazara Z, Fragoso R, Olivares N, Rolon A, Cantu J M
出版信息
Ann Genet. 1979;22(4):228-31.
PMID:317787
Abstract
Two girls (aged 46 and 5 months) and one boy aged 5 months) were studied and found to have the Wolf-Hirschhorn syndrome. Chromosomal complement in all three cases implicated the deletion of the 4p16 band ; in two of them an extra segment of autosomal material was found to be translocated to 4p. Parents' karyotypes were normal. It is concluded that the expression of the 4p16 monosomy is stronger than that of some simultaneous partial trisomies.
摘要
对两名女孩（年龄分别为46岁和5个月）和一名男孩（5个月）进行了研究，发现他们患有沃尔夫-赫希霍恩综合征。所有三例的染色体组型均显示4p16带缺失；其中两例发现一条常染色体物质的额外片段易位至4p。父母的核型正常。得出的结论是，4p16单体型的表现强于某些同时存在的部分三体性。
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