Cytogenetic and molecular genetic diagnosis of a neonate with partial 13q trisomy and partial 5p monosomy / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To diagnose a neonate presenting with multiple dysmorphic features, Cri-du-chat signs and hypoglycemia and to correlate the phenotype with the genotype.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>The neonate was diagnosed with a partial 13q trisomy (q12 → qter) and partial 5p monosomy (p15 →pter).</p><p><b>CONCLUSION</b>A rare diagnosis has been established with combined cytogenetic and molecular genetic techniques. QF-PCR has a broad application in genetic diagnosis.</p>