一例因父源插入易位ins(16;21)导致的21号染色体部分三体（q22.2q22.3）的产前病例，通过荧光定量聚合酶链反应（QF-PCR）发现，并经比较基因组杂交阵列（array CGH）和荧光原位杂交（FISH）进行特征分析。
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.
作者信息
Bhola Shama L, Nieuwint Aggie W M, Stuurman Kyra E
机构信息
Department of Clinical Genetics VU University Medical Center Amsterdam The Netherlands.
Department of Clinical Genetics Erasmus Medical Center Rotterdam The Netherlands.
出版信息
Clin Case Rep. 2018 May 29;6(7):1313-1316. doi: 10.1002/ccr3.1563. eCollection 2018 Jul.
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.
摘要
除了检测整条染色体的三体性外，QF-PCR还可以检测13号、18号和21号染色体的部分三体性，这可能提示存在不平衡易位。当怀疑存在不平衡易位时，建议采用其他技术（如微阵列或荧光原位杂交）进行进一步检测。
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