PMID- 24434231
OWN - NLM
STAT- MEDLINE
DCOM- 20141106
LR  - 20161229
IS  - 1879-3479 (Electronic)
IS  - 0020-7292 (Linking)
VI  - 125
IP  - 1
DP  - 2014 Apr
TI  - Prenatal diagnosis of Prader-Willi syndrome and Angelman syndrome for fetuses 
      with suspicious deletion of chromosomal region 15q11-q13.
PG  - 18-21
LID - S0020-7292(13)00672-3 [pii]
LID - 10.1016/j.ijgo.2013.09.028 [doi]
AB  - 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). CONCLUSION: 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.
CI  - Copyright (c) 2013 International Federation of Gynecology and Obstetrics. Published 
      by Elsevier Ireland Ltd. All rights reserved.
FAU - Chang, Chia-Wei
AU  - Chang CW
AD  - Department of Obstetrics and Gynecology, National Chen-Kung University Hospital 
      and College of Medicine, Tainan, Taiwan.
FAU - Hsu, Hui-Kuo
AU  - Hsu HK
AD  - Cytogenetic Laboratory of the Department of Pathology, National Chen-Kung 
      University Hospital and College of Medicine, Tainan, Taiwan.
FAU - Kao, Chiu-Ching
AU  - Kao CC
AD  - Department of Obstetrics and Gynecology, National Chen-Kung University Hospital 
      and College of Medicine, Tainan, Taiwan.
FAU - Huang, Jyun-Yuan
AU  - Huang JY
AD  - Department of Obstetrics and Gynecology, National Chen-Kung University Hospital 
      and College of Medicine, Tainan, Taiwan.
FAU - Kuo, Pao-Lin
AU  - Kuo PL
AD  - Department of Obstetrics and Gynecology, National Chen-Kung University Hospital 
      and College of Medicine, Tainan, Taiwan. Electronic address: 
      paolink@mail.ncku.edu.tw.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20140102
PL  - United States
TA  - Int J Gynaecol Obstet
JT  - International journal of gynaecology and obstetrics: the official organ of the 
      International Federation of Gynaecology and Obstetrics
JID - 0210174
SB  - IM
MH  - Adult
MH  - Angelman Syndrome/*diagnosis/genetics
MH  - Chromosomes, Human, Pair 15/genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Nucleic Acid Amplification Techniques/methods
MH  - Polymerase Chain Reaction
MH  - Prader-Willi Syndrome/*diagnosis/genetics
MH  - Pregnancy
MH  - Prenatal Diagnosis/*methods
MH  - Retrospective Studies
MH  - *Sequence Deletion
MH  - Taiwan
OTO - NOTNLM
OT  - Angelman syndrome
OT  - Prader-Willi syndrome
OT  - Prenatal diagnosis
EDAT- 2014/01/18 06:00
MHDA- 2014/11/07 06:00
CRDT- 2014/01/18 06:00
PHST- 2013/06/06 00:00 [received]
PHST- 2013/09/11 00:00 [revised]
PHST- 2013/12/22 00:00 [accepted]
PHST- 2014/01/18 06:00 [entrez]
PHST- 2014/01/18 06:00 [pubmed]
PHST- 2014/11/07 06:00 [medline]
AID - S0020-7292(13)00672-3 [pii]
AID - 10.1016/j.ijgo.2013.09.028 [doi]
PST - ppublish
SO  - Int J Gynaecol Obstet. 2014 Apr;125(1):18-21. doi: 10.1016/j.ijgo.2013.09.028. 
      Epub 2014 Jan 2.