CONSTITUTIONAL FRAGILITY OF CHROMOSOME-12 IN A CASE OF 46,XX,VAR(12)(QH',RHG,GAG,CBG)

被引：15

作者：

DONTI, E

VENTI, G

BOCCHINI, V

ROSI, G

ARMELLINI, R

TRABALZA, N

机构：

[1] UNIV PERUGIA, IST BIOL GEN, I-06100 PERUGIA, ITALY

[2] OSPED REG PERUGIA, DIV NEONATALE, PERUGIA, ITALY

来源：

HUMAN GENETICS | 1979年 / 48卷 / 01期

关键词：

D O I：

10.1007/BF00273274

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The constitutional fragility of chromosome 12 in a female infant with unspecific clinical signs is described. RHG [reverse banding by heating with Giemsa], GAG [Giemsa banding using acetic saline/Giemsa] and CBG [constitutive heterochromatin banding using Ba(OH)2/Giemsa] methods were used to localize the fragile point. The breaks seem to be in 12q1.3, and always within an R [reverse] band. A possible correlation between the phenotypic modifications and the chromosome variant is discussed.

引用

页码：53 / 59

页数：7

共 32 条

[1]

[Anonymous], 1985, Occasional Papers of the Museum of Zoology, University of Michigan

[2] DISTRIBUTION OF SPONTANEOUS CHROMOSOME BREAKS IN HUMAN-CHROMOSOMES [J].