[Cytogenetic and molecular genetic diagnosis of a neonate with partial 13q trisomy and partial 5p monosomy]
- PMID: 25449080
- 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]
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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