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Prenatal diagnosis of Prader–Willi syndrome and Angelman syndrome for fetuses with suspicious deletion of chromosomal region 15q11‐q13
Author(s) -
Chang ChiaWei,
Hsu HuiKuo,
Kao ChiuChing,
Huang JyunYuan,
Kuo PaoLin
Publication year - 2014
Publication title -
international journal of gynecology and obstetrics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.895
H-Index - 97
eISSN - 1879-3479
pISSN - 0020-7292
DOI - 10.1016/j.ijgo.2013.09.028
Subject(s) - angelman syndrome , medicine , prenatal diagnosis , fetus , pediatrics , obstetrics , pregnancy , genetics , gene , biology
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.