title: Brief report. Adult patient presenting an interstitial (9) (q21.32q31.1) direct duplication resulting from the malsegregation of a paternal balanced insertional translocation.
abstract: BACKGROUND
  The partial trisomy 9q syndrome is a well-defined chromosomal disorder with over 40 reported cases in the literature. However, 9q duplications derived from an insertional translocation have rarely been reported.
  
  
  METHODS
  Cytogenetic and molecular analyses using G-banding, fluorescence in situ hybridization, and single nucleotide polymorphism array were performed in a 25-year-old male patient with intellectual disability, behavioral abnormalities, speech delay, postnatal growth retardation, distinctive facial features, and pyloric stenosis.
  
  
  RESULTS
  G-banding analysis showed an extra chromosome segment of unknown origin inserted into band 4q25. A 16,747,601 bp duplication of 9q21.32q31.1 inserted into band 4q25 and a balanced (4;9) insertional translocation were identified by single nucleotide polymorphism array and fluorescence in situ hybridization analysis respectively in the patient and his healthy father. A literature review was performed to refine genotype-phenotype correlation of the partial trisomy 9q syndrome.
  
  
  CONCLUSIONS
  This is the first report on the molecular characterization of a partial trisomy 9q syndrome derived from an insertional translocation between nonhomologous chromosomes. Our findings provide important information for genetic counseling and prenatal diagnosis of future pregnancies in this family.
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, P.R. China.
authors.forename: Linbei
authors.initials: L
authors.lastname: Deng
authors.forename: Ying
authors.initials: Y
authors.lastname: Peng
authors.forename: Jing
authors.initials: J
authors.lastname: Liu
authors.forename: Juan
authors.initials: J
authors.lastname: Wen
authors.forename: Yan
authors.initials: Y
authors.lastname: Xia
authors.forename: Desheng
authors.initials: D
authors.lastname: Liang
authors.forename: Lingqian
authors.initials: L
authors.lastname: Wu
mesh_terms: D000328:Adult; D001526:Behavioral Symptoms / Q000235:genetics* / Q000473:pathology; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D007805:Language Development Disorders / Q000235:genetics* / Q000473:pathology; D008297:Male; D014178:Translocation, Genetic; D014314:Trisomy / Q000235:genetics* / Q000473:pathology
keywords: SNP array; behavioral abnormalities; insertional translocation; partial trisomy 9q syndrome; speech delay