PATERNAL ORIGIN OF THE DENOVO DELETED CHROMOSOME-4 IN WOLF-HIRSCHHORN SYNDROME

被引:33
作者
TUPLER, R
BORTOTTO, L
BUHLER, EM
ALKAN, M
MALIK, NJ
JADOOA, NB
MEMO, L
MARASCHIO, P
机构
[1] UNIV PAVIA, CP 217, I-27100 PAVIA, ITALY
[2] OSPED CIVIL, DIV PEDIAT, TREVISO, ITALY
[3] OSPED CIVIL, IST IMMUNOTRASFUS, CITOGENET LAB, UDINE, ITALY
[4] UNIV BASEL, CHILDRENS HOSP, GENET LABOR, BASEL, SWITZERLAND
关键词
D O I
10.1136/jmg.29.1.53
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
The parental origin of the de novo deleted chromosome 4 was studied in five cases of Wolf-Hirschhorn syndrome using polymorphic probes mapping in the 4p16.3 region. In all the patients the deleted chromosome was found to be of paternal origin and these results, together with similar ones obtained by another group, make the preferential paternal origin of the de novo chromosome 4 deletion highly significant.
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收藏
页码:53 / 55
页数:3
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