[一名患有部分13号染色体三体和部分5号染色体单体的新生儿的细胞遗传学和分子遗传学诊断]
[Cytogenetic and molecular genetic diagnosis of a neonate with partial 13q trisomy and partial 5p monosomy].
作者信息
Xiao Wenjun, Gao Zhenkui, Meng Qian, Zhang Man
机构信息
Department of Laboratory Medicine, Beijing Shijitan Hospital Affiliated to Capital Medical University, Beijing 100038, P. R. China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Dec;31(6):747-9. doi: 10.3760/cma.j.issn.1003-9406.2014.06.014.
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.
目的
诊断一名具有多种畸形特征、猫叫综合征体征和低血糖的新生儿，并将其表型与基因型相关联。
方法
采用传统细胞遗传学和实时荧光定量PCR（QF-PCR）对该患者进行诊断。然后通过文献回顾将表型与基因型相关联。
结果
该新生儿被诊断为13号染色体长臂部分三体（q12→qter）和5号染色体短臂部分单体（p15→pter）。
结论
联合细胞遗传学和分子遗传学技术确诊了一例罕见病例。QF-PCR在基因诊断中有广泛应用。
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