title: Detection of recurrent transmission of 17q12 microdeletion by array comparative genomic hybridization in a fetus with prenatally diagnosed hydronephrosis, hydroureter, and multicystic kidney, and variable clinical spectrum in the family.
abstract: OBJECTIVE
  This study was aimed at detection of recurrent transmission of the 17q12 microdeletion in a fetus with congenital anomalies of the kidney and urinary tract.
  
  
  METHODS
  A 35-year-old woman was referred to the hospital at 20 weeks' gestation because of hydronephrosis in the fetus. The mother was normal and healthy. Her second child was a girl who had bilateral dysplastic kidneys that required hemodialysis, and died at the age of 5 years. During this pregnancy, the woman underwent amniocentesis at 18 weeks' gestation because of advanced maternal age. Cytogenetic analysis revealed a karyotype of 46,XY. Prenatal ultrasound showed left hydronephrosis with a tortuous ureter, right hydronephrosis, and increased echogenicity of the kidneys. Fetal magnetic resonance imaging showed right dilated renal calyces, left hydronephrosis, hydroureter, and multicystic kidney. The pregnancy was subsequently terminated. Array comparative genomic hybridization (aCGH) and fluorescence in situ hybridization were applied for genetic analysis using umbilical cord, maternal blood, and cultured amniocytes.
  
  
  RESULTS
  aCGH analysis on umbilical cord detected a 1.75-Mb deletion at 17q12 including haploinsufficiency of LHX1 and HNF1B. aCGH analysis on maternal blood detected a 1.54-Mb deletion at 17q12 including haploinsufficiency of LHX1 and HNF1B. Metaphase fluorescence in situ hybridization analysis on cultured amniocytes and maternal blood lymphocytes using 17q12-specific bacterial artificial chromosome probe showed 17q12 microdeletion in the fetus and the mother.
  
  
  CONCLUSIONS
  Prenatal diagnosis of recurrent renal and urinary tract abnormalities in the fetus should include a differential diagnosis of familial 17q12 microdeletion.
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: Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Lin-Kou Medical Center, Tao-Yuan, Taiwan; Department of Obstetrics and Gynecology, College of Medicine, Chang Gung University, Tao-Yuan, Taiwan.
authors.forename: Shuenn-Dyh
authors.initials: SD
authors.lastname: Chang
authors.affiliation: Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Lin-Kou Medical Center, Tao-Yuan, Taiwan; Department of Obstetrics and Gynecology, College of Medicine, Chang Gung University, Tao-Yuan, Taiwan; Genomic Medicine Research Core Laboratory (GMRCL), Chang Gung Memorial Hospital, Lin-Kou Medical Center, Tao-Yuan, Taiwan.
authors.forename: Tzu-Hao
authors.initials: TH
authors.lastname: Wang
authors.affiliation: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
authors.forename: Liang-Kai
authors.initials: LK
authors.lastname: Wang
authors.affiliation: Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
authors.forename: Jeng-Daw
authors.initials: JD
authors.lastname: Tsai
authors.affiliation: Mackay Junior College of Medicine, Nursing and Management, Taipei, Taiwan; Department of Radiology, Mackay Memorial Hospital Hsinchu Branch, Hsinchu, Taiwan.
authors.forename: Yu-Peng
authors.initials: YP
authors.lastname: Liu
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; Department of Obstetrics and Gynecology, China Medical University Hospital, Taichung, Taiwan.
authors.forename: Jun-Wei
authors.initials: JW
authors.lastname: Su
authors.affiliation: Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan.
authors.forename: Yu-Ting
authors.initials: YT
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; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics*; D051539:Hepatocyte Nuclear Factor 1-beta / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D006869:Hydronephrosis / Q000151:congenital / Q000175:diagnosis / Q000235:genetics*; D060850:LIM-Homeodomain Proteins / Q000235:genetics; D021782:Multicystic Dysplastic Kidney / Q000175:diagnosis / Q000235:genetics*; D011247:Pregnancy; D014157:Transcription Factors / Q000235:genetics; D014515:Ureteral Diseases / Q000151:congenital / Q000175:diagnosis / Q000235:genetics*
chemical_list: C496495:HNF1B protein, human; C085473:LHX1 protein, human; D060850:LIM-Homeodomain Proteins; D014157:Transcription Factors; D051539:Hepatocyte Nuclear Factor 1-beta
keywords: 17q12 microdeletion; HNF1B; LHX1; hydronephrosis; multicystic kidney