PRESUMPTIVE LONG ARM DELETION OF CHROMOSOME-8 - NEW SYNDROME

被引:27
作者
TAYSI, K
NOETZEL, MJ
STRAUSS, AW
机构
[1] ST LOUIS CHILDRENS HOSP,DIV MED GENET,ST LOUIS,MO 63110
[2] ST LOUIS CHILDRENS HOSP,DIV CARDIOL,ST LOUIS,MO 63110
关键词
D O I
10.1007/BF00278291
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
This communication describes an infant with growth and psychomotor retardation and severe congenital malformations, who was found to have an interstitial deletion of the long arm of chromosome 8: 46,XY,del(8) (q13q22). Comparison with the only other previously reported patient with a deletion of a similar chromosomal segment suggested that deletion of the long arm of chromosome 8 may constitute a clinically recognizable syndrome. © 1979 Springer-Verlag.
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页码:49 / 53
页数:5
相关论文
共 3 条
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[2]   DELETION OF LONG ARM OF CHROMOSOME-8 RESULTING FROM A DENOVO TRANSLOCATION T(4-8) (Q13-Q213) [J].
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HUMAN GENETICS, 1977, 38 (02) :125-130
[3]  
1972, BIRTH DEFECTS OAS, V8