title: [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).
  
  
  CONCLUSIONS
  A rare diagnosis has been established with combined cytogenetic and molecular genetic techniques. QF-PCR has a broad application in genetic diagnosis.
authors.affiliation: Department of Laboratory Medicine, Beijing Shijitan Hospital Affiliated to Capital Medical University, Beijing 100038, P. R. China. mzhang99@aliyun.com.
authors.forename: Wenjun
authors.initials: W
authors.lastname: Xiao
authors.forename: Zhenkui
authors.initials: Z
authors.lastname: Gao
authors.forename: Qian
authors.initials: Q
authors.lastname: Meng
authors.forename: Man
authors.initials: M
authors.lastname: Zhang
mesh_terms: D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D003410:Cri-du-Chat Syndrome / Q000175:diagnosis / Q000235:genetics; D003582:Cytogenetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics