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. 2014 Dec;31(6):747-9.
doi: 10.3760/cma.j.issn.1003-9406.2014.06.014.

[Cytogenetic and molecular genetic diagnosis of a neonate with partial 13q trisomy and partial 5p monosomy]

[Article in Chinese]
Wenjun Xiao  1 , Zhenkui Gao, Qian Meng, Man Zhang
Affiliations

[Cytogenetic and molecular genetic diagnosis of a neonate with partial 13q trisomy and partial 5p monosomy]

[Article in Chinese]
Wenjun Xiao et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Dec.

Abstract

Objective: To diagnose a neonate presenting with multiple dysmorphic features, Cri-du-chat signs and hypoglycemia and to correlate the phenotype with the genotype.

Methods: The patient was diagnosed with conventional cytogenetics and real-time fluorescence quantitative PCR (QF-PCR). The phenotype was then correlated with the genotype through a review of literature.

Results: The neonate was diagnosed with a partial 13q trisomy (q12 → qter) and partial 5p monosomy (p15 →pter).

Conclusion: A rare diagnosis has been established with combined cytogenetic and molecular genetic techniques. QF-PCR has a broad application in genetic diagnosis.

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