16p11.2缺失综合征1例并文献复习

Infantileconvulsionsandparoxysmalkinesigenicdyskinesiawith16p11.2microdeletion.Neurology牞2011牞77牗14牘牶14011402犤32犦BattagliaA牞NovelliA牞BernardiniL牞etal.Furthercharacterizationofthenewmicrodeletionsyndromeof16p11.2p12.2.A牞2009牞149A牗6牘牶1200eM牞DelormeR牞etal.Autismmultiplexfamilywith16p11.2p12.2microduplicationsyndromeinmonozygotictwinsanddistal16p11.2deletionintheirbrother.牞2012牞20牗5牘牶540546犤34犦ShenY牞ChenX牞WangL牞etal.Intrafamilyphenotypicheterogeneityof16p11.2deletioncarriersinathreegenerationChinesefamily.牞2011牞156牗2牘牶225232犤35犦BijlsmaEK牞GijsbersAC牞SchuursHoeijmakersJH牞etal.Extendingthephenotypeofrecurrentrearrangementsof16p11.2牶deletionsinmentallyretardedpatientswithoutautismandinnormalindividuals.牞2009牞52牗23牘牶7787(收稿日期:20140820修回日期:20141202)(本文编辑:丁俊杰)·554·中国循证儿科杂志2014年12月第9卷第6期