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

Shama L Bhola; Aggie W M Nieuwint; Kyra E Stuurman

doi:10.1002/ccr3.1563

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

Clin Case Rep. 2018 May 29;6(7):1313-1316. doi: 10.1002/ccr3.1563. eCollection 2018 Jul.

Authors

Shama L Bhola¹, Aggie W M Nieuwint¹, Kyra E Stuurman²

Affiliations

¹ Department of Clinical Genetics VU University Medical Center Amsterdam The Netherlands.
² Department of Clinical Genetics Erasmus Medical Center Rotterdam The Netherlands.

Abstract

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.

Keywords: FISH; QF‐PCR; chromosome 21; insertion translocation; microarray; prenatal.

Publication types

Case Reports