A prenatal case of partial trisomy 21 (q22.2q22.3), resulting from a paternal insertion translocation ins(16;21) and uncovered by QF-PCR, and characterized by array CGH and FISH

被引：1

作者：

Bhola, Shama L. ^{[1
]}

Nieuwint, Aggie W. M. ^{[1
]}

Stuurman, Kyra E. ^{[2
]}

机构：

[1] Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet, POB 7057, NL-1007 MB Amsterdam, Netherlands

[2] Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands

来源：

CLINICAL CASE REPORTS | 2018年 / 6卷 / 07期

关键词：

chromosome; 21; FISH; insertion translocation; microarray; prenatal; QF-PCR;

D O I：

10.1002/ccr3.1563

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

In addition to detecting trisomies of whole chromosomes, QF-PCR can also detect partial trisomies of the chromosomes 13, 18, and 21, which can suggest an unbalanced translocation. Additional testing with other techniques, such as microarray or FISH, is recommended when an unbalanced translocation is suspected. © 2018 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.

引用

页码：1313 / 1316

页数：4