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

Research output: Contribution to journalArticleAcademicpeer-review

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.
Original languageEnglish
Pages (from-to)1313-1316
JournalClinical case reports
Volume6
Issue number7
DOIs
Publication statusPublished - 2018

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