title: Prenatal diagnosis of Prader-Willi syndrome and Angelman syndrome for fetuses with suspicious deletion of chromosomal region 15q11-q13.
abstract: OBJECTIVE
  To identify Prader-Willi syndrome (PWS) and Angelman syndrome (AS) among fetuses with suspicious deletion of the chromosomal region 15q11-q13.
  
  
  METHODS
  In a retrospective study, data were assessed from fetuses missing chromosomal band 15q12 that underwent molecular diagnosis at the National Chen-Kung University Hospital, Tainan, Taiwan, between January 2001 and December 2012. Amniocytes were subjected to molecular testing, including fluorescence in situ hybridization (FISH) analysis, methylation-specific PCR (M-PCR), and methylation-specific multiplex-ligation-dependent probe amplification (MS-MLPA).
  
  
  RESULTS
  During the 12-year study period, 26 041 amniocyte samples were analyzed at the study center and 27 (0.1%) were found to have a missing 15q12 band. A further 16 samples with a missing 15q12 band were received from other cytogenetic laboratories; as a result, 43 amniocyte samples lacking chromosomal band 15q12 underwent further molecular testing. Among these samples, 3 fetuses (7.0%) were found to have PWS (n=1) or AS (n=2).
  
  
  CONCLUSIONS
  A minority of cases with missing 15q12 had deletion of the PWS/AS critical region. This finding draws attention to the subtle structural rearrangements that occur on 15q11-q13 and provides useful information for prenatal diagnosis of PWS and AS.
authors.affiliation: Department of Obstetrics and Gynecology, National Chen-Kung University Hospital and College of Medicine, Tainan, Taiwan.
authors.forename: Chia-Wei
authors.initials: CW
authors.lastname: Chang
authors.affiliation: Cytogenetic Laboratory of the Department of Pathology, National Chen-Kung University Hospital and College of Medicine, Tainan, Taiwan.
authors.forename: Hui-Kuo
authors.initials: HK
authors.lastname: Hsu
authors.affiliation: Department of Obstetrics and Gynecology, National Chen-Kung University Hospital and College of Medicine, Tainan, Taiwan.
authors.forename: Chiu-Ching
authors.initials: CC
authors.lastname: Kao
authors.affiliation: Department of Obstetrics and Gynecology, National Chen-Kung University Hospital and College of Medicine, Tainan, Taiwan.
authors.forename: Jyun-Yuan
authors.initials: JY
authors.lastname: Huang
authors.affiliation: Department of Obstetrics and Gynecology, National Chen-Kung University Hospital and College of Medicine, Tainan, Taiwan. Electronic address: paolink@mail.ncku.edu.tw.
authors.forename: Pao-Lin
authors.initials: PL
authors.lastname: Kuo
mesh_terms: D000328:Adult; D017204:Angelman Syndrome / Q000175:diagnosis* / Q000235:genetics; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D021141:Nucleic Acid Amplification Techniques / Q000379:methods; D016133:Polymerase Chain Reaction; D011218:Prader-Willi Syndrome / Q000175:diagnosis* / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012189:Retrospective Studies; D017384:Sequence Deletion; D013624:Taiwan
keywords: Angelman syndrome; Prader–Willi syndrome; Prenatal diagnosis