TY - JOUR
T1 - Prenatal diagnosis of Prader-Willi syndrome and Angelman syndrome for fetuses with suspicious deletion of chromosomal region 15q11-q13
AU - Chang, Chia Wei
AU - Hsu, Hui Kuo
AU - Kao, Chiu Ching
AU - Huang, Jyun Yuan
AU - Kuo, Pao Lin
N1 - Funding Information:
The study was supported by a grant from Ya-Fu Chen, Cheng-Chen Machinery Corporation, and grants from the Bureau of Health Promotion, Department of Health, Taiwan (DOH95-HP-2203).
PY - 2014/4
Y1 - 2014/4
N2 - 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.
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.
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U2 - 10.1016/j.ijgo.2013.09.028
DO - 10.1016/j.ijgo.2013.09.028
M3 - Article
C2 - 24434231
AN - SCOPUS:84896698511
VL - 125
SP - 18
EP - 21
JO - International Journal of Gynecology and Obstetrics
JF - International Journal of Gynecology and Obstetrics
SN - 0020-7292
IS - 1
ER -