title: Prenatal diagnosis of familial transmission of 17q12 microduplication associated with no apparent phenotypic abnormality.
abstract: OBJECTIVE
  We present prenatal diagnosis of familial transmission of 17q12 duplication associated with no apparent phenotypic abnormality.
  
  
  METHODS
  A 36-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Cytogenetic analysis revealed a karyotype of 46,XY. Array comparative genomic hybridization of uncultured amniocytes revealed a 1.42-Mb duplication of 17q12 or arr 17q12 (34,822,465-36,243,365) × 3 encompassing 12 Online Mendelian Inheritance in Man (OMIM) genes including LHX1, ACACA, and HNF1B. Array comparative genomic hybridization analysis of parental bloods revealed no genomic imbalance in the mother, and a result of arr 17q12 (34,611,377-36,248,889) × 2.9 encompassing 16 OMIM genes, including LHX1, ACACA, and HNF1B, in the 29-year-old phenotypically normal father. Prenatal ultrasound findings were unremarkable. The parents elected to continue the pregnancy. At 37 weeks of gestation, a 2789-g normal male baby was delivered uneventfully. When examined at the age of 7 months, the neonate was as phenotypically normal as his father.
  
  
  CONCLUSIONS
  The 17q12 microduplication may present with variable phenotypes including no apparent phenotypic abnormality in familial cases. However, neuropsychiatry assessment and monitoring should be warranted in childhood and through adulthood under such a circumstance.
authors.affiliation: Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan. Electronic address: cpc_mmh@yahoo.com.
authors.forename: Chih-Ping
authors.initials: CP
authors.lastname: Chen
authors.affiliation: Hungchi Women and Children's Hospital, Chungli, Taoyuan, Taiwan.
authors.forename: Chung-Hu
authors.initials: CH
authors.lastname: Fu
authors.affiliation: Department of Obstetrics and Gynecology, Taipei Medical University-Wan Fang Hospital, Taipei, Taiwan.
authors.forename: Yi-Hui
authors.initials: YH
authors.lastname: Lin
authors.affiliation: Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
authors.forename: Schu-Rern
authors.initials: SR
authors.lastname: Chern
authors.affiliation: Gene Biodesign Co. Ltd, Taipei, Taiwan.
authors.forename: Peih-Shan
authors.initials: PS
authors.lastname: Wu
authors.affiliation: Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
authors.forename: Yen-Ni
authors.initials: YN
authors.lastname: Chen
authors.affiliation: Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
authors.forename: Shin-Wen
authors.initials: SW
authors.lastname: Chen
authors.affiliation: Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.
authors.forename: Wayseen
authors.initials: W
authors.lastname: Wang
mesh_terms: D000328:Adult; D000649:Amniocentesis; D002886:Chromosomes, Human, Pair 17; D055028:Comparative Genomic Hybridization; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D011247:Pregnancy; D014314:Trisomy; D016216:Ultrasonography, Prenatal
keywords: 17q12 duplication; ACACA; HNF1B; LHX1; prenatal diagnosis