title: Prenatal detection of 10q22q23 duplications: dilemmas in phenotype prediction.
abstract: OBJECTIVE
  The phenotype for 10q22q23 duplication is diverse, ranging from intellectual disability and dysmorphism to normal development. Interpreting the clinical significance of the duplication identified in this region is difficult, especially in the prenatal setting. This study aimed to characterize the prenatal findings associated with this submicroscopic imbalance and discuss the dilemmas in predicting the phenotype of 10q22q23 duplications.
  
  
  METHODS
  This is a retrospective study of three cases of 10q22q23 duplications diagnosed prenatally by chromosomal microarray analysis. Detailed pregnancy outcome and pediatric follow-up were documented.
  
  
  RESULTS
  The genotypic and phenotypic features of the reported cases were discussed. 10q22q23 duplications are associated with an unpredictable and variable phenotypic outcome. Despite there was no phenotype found to be shared by 50% of the duplication cases, congenital heart defects, hypotelorism, and developmental delays including speech and motor delay seem to be more common.
  
  
  CONCLUSIONS
  The phenotype of 10q22q23 duplication is highly variable prenatally and postnatally. Identification of additional affected individuals with similar duplications is needed to provide further insights into the pathogenesis of this microduplication. © 2016 John Wiley & Sons, Ltd.
authors.affiliation: Department of Obstetrics and Gynecology, The Chinese University of Hong Kong, Hong Kong.
authors.forename: Grace Wing Shan
authors.initials: GW
authors.lastname: Kong
authors.affiliation: Department of Obstetrics and Gynecology, The Chinese University of Hong Kong, Hong Kong.|Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen, China.
authors.forename: Ye
authors.initials: Y
authors.lastname: Cao
authors.affiliation: Department of Obstetrics and Gynecology, The Chinese University of Hong Kong, Hong Kong.
authors.forename: Jin
authors.initials: J
authors.lastname: Huang
authors.affiliation: Department of Obstetrics and Gynecology, The Chinese University of Hong Kong, Hong Kong.
authors.forename: Kwun Yue
authors.initials: KY
authors.lastname: Cheng
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
authors.forename: Amber Nolen
authors.initials: AN
authors.lastname: Pursley
authors.affiliation: Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, WA, USA.
authors.forename: Jill Anne
authors.initials: JA
authors.lastname: Rosenfeld
authors.affiliation: Genetic Counseling Program, University of South Carolina, Columbia, SC, USA.
authors.forename: Janice G
authors.initials: JG
authors.lastname: Edwards
authors.affiliation: Department of Obstetrics and Gynecology, The Chinese University of Hong Kong, Hong Kong.
authors.forename: Yiu Man
authors.initials: YM
authors.lastname: Chan
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
authors.forename: Sau Wai
authors.initials: SW
authors.lastname: Cheung
authors.affiliation: Department of Obstetrics and Gynecology, The Chinese University of Hong Kong, Hong Kong.|Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen, China.|Hong Kong Branches of Chinese National Engineering Research Centers-Center for Assisted Reproductive Technology and Reproductive Genetics, The Chinese University of Hong Kong, Hong Kong.
authors.forename: Tak Yeung
authors.initials: TY
authors.lastname: Leung
authors.affiliation: Department of Obstetrics and Gynecology, The Chinese University of Hong Kong, Hong Kong.|Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen, China.|Hong Kong Branches of Chinese National Engineering Research Centers-Center for Assisted Reproductive Technology and Reproductive Genetics, The Chinese University of Hong Kong, Hong Kong.
authors.forename: Kwong Wai
authors.initials: KW
authors.lastname: Choy
mesh_terms: D058674:Chromosome Duplication / Q000235:genetics*; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D000013:Congenital Abnormalities / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics; D004200:Diseases in Twins / Q000235:genetics; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D046228:Microarray Analysis; D048208:Nuchal Translucency Measurement; D010641:Phenotype; D011247:Pregnancy; D059285:Pregnancy, Twin / Q000235:genetics; D011296:Prenatal Diagnosis / Q000379:methods*; D012189:Retrospective Studies; D016216:Ultrasonography, Prenatal