Trisomy 12p mosaicism syndrome.
作者信息
Karki C B, Walters R M
机构信息
Stoke Park Hospital, Stapleton, Bristol, England.
出版信息
J Ment Defic Res. 1990 Feb;34 ( Pt 1):75-80. doi: 10.1111/j.1365-2788.1990.tb01517.x.
Abstract
A case of trisomy 12p mosaicism originating de novo in a 21-year-old profoundly mentally handicapped female who presented with severe behaviour problems is described. The 12p syndrome has been confirmed by clinical, cytogenetic and biochemical studies. The findings are compared with those of other cases with trisomy 12p arising de novo.
摘要
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Trisomy 12p mosaicism syndrome.
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