Pure and complete trisomy 18p due to a supernumerary marker chromosome associated with moderate mental retardation
Pure and complete trisomy 18p due to a supernumerary marker chromosome associated with moderate mental retardation
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DOI：
10.1002/ajmg.a.31633
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发表时间：
2007-04-01
影响因子：
2
通讯作者：
Tachdjian, G.
中科院分区：
文献类型：
--
作者：
Mabboux, P.;Brisset, S.;Tachdjian, G.
18号染色体短臂三体或18 p三体很少被描述。我们报告一个13岁的男孩，有轻微的面部异常，智力低下，双侧隐睾症与新生的supernumeary标记染色体（SMC）。使用荧光原位杂交和比较基因组杂交分析，这SMC对应于与染色体13或21和核仁组织区（NORs）的着丝粒相关的18号染色体的p臂。我们在这里报告的第一例纯和完整的三体18 p（由于SMC。本报告和文献回顾证实，与18 p三体相关的主要表型异常是中度智力低下。(c)2007 Wiley-Liss，Inc.
Trisomy for the short arm of chromosome 18 or trisomy 18p, is rarely described. We report on a 13-year-old boy with minor facial anomalies, mental retardation, bilateral cryptorchidism associated with a de novo supernumeary marker chromosome (SMC). Using fluorescence in situ hybridization and comparative genomic hydridization analyses, this SMC corresponded to the p arm of chromosome 18 associated with a centromere of either chromosome 13 or 21 and nucleolus organizing regions (NORs). We report here the first case of a pure and complete trisomy 18p (due to a SMC. This report and review of literature confirm that the main phenotypic anomaly associated with trisomy 18p is moderate mental retardation. (c) 2007 Wiley-Liss, Inc.