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

CLINICAL CASE REPORTS（2018）

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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.

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关键词

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

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