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  • Title: [Prenatal diagnosis of 22q11.2 microdeletion by multiplex ligation-dependent probe amplification].
    Author: Luo CY, Ma DY, Zhang JJ, Hu P, Cao L, Ji XQ, Zhou J, Liu A, Wu Y, Cheng J, Lin Y, Xu ZF.
    Journal: Zhonghua Fu Chan Ke Za Zhi; 2013 Nov; 48(11):824-7. PubMed ID: 24444558.
    Abstract:
    OBJECTIVE: To explore the clinical value of multiplex ligation-dependent probe amplification (MLPA) technique performed in prenatal diagnosis of chromosome 22q11.2 microdeletion. METHODS: MLPA was performed to detect chromosome 22q11.2 mircodeletion in 62 fetuses with congenital heart defects by fetal echocardiography and a normal karyotype by standard G-banding analysis.For a 22q11.2 mircodeletion fetus, his parents were detected to know if it is inherited or de novo. The microdeletion was confirmed by array-based comparative genomic hybridization (arrayCGH). RESULTS: MLPA revealed five 22q11.2 mircodeletions in the 62 fetuses, and the positive detection rate was 8% (5/62). Among these, 4 cases carried the 3M typically deletion which all are de novo, and 1 case carried the 1.5M non-typically deletion which was inherited from his father.arrayCGH confirmed the 22q11.2 microdeletions and delineated the precise location and size of microdeletions. CONCLUSION: MLPA has clinical value in prenatal diagnosis of 22q11.2 mircodeletion, which could provide important genetic information for genetic consulting, pregnancy management and intervention after birth.
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