Pure partial trisomy 5q33 → 5q35 resulting from the adjacent-1 segregation of a paternal (5;14)(q33;p12) translocation

被引：0

作者：

Paoloni-Giacobino, A ^{[1
]}

Bottani, A ^{[1
]}

Dahoun, SP ^{[1
]}

机构：

[1] CMU, Div Med Genet, CH-1211 Geneva, Switzerland

来源：

ANNALES DE GENETIQUE | 1999年 / 42卷 / 03期

关键词：

chromosome; 5; trisomy; 59; translocation; mental retardation;

D O I：

暂无

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A 14-year-old male was referred for evaluation of mental retardation with short stature and dysmorphic features. His karyotype was 46,XY,der(14)t(5;14)(q33;p12)pat, resulting in a pure partial 5q33-q35 trisomy due to the adjacent-1 segregation of a paternal balanced translocation. Paternal blood karyotype revealed a balanced translocation t(5;14)(q33;p12) retaining Ag-Nors. To date, only two cases of pure partial 5q trisomies spanning this region have been reported, Analysis of these cases and the one we report does not allow the delineation of a specific phenotype.

引用

页码：166 / 169

页数：4

共 11 条

[1]

COHEN O, 1992, ANN GENET-PARIS, V35, P193

[2] THE TRISOMY (5)(Q31-QTER) SYNDROME - STUDY OF A FAMILY WITH A T(5-14) TRANSLOCATION [J].