Pure partial duplications of the long arm of chromosome 16 are rare and few cases are described with delineation by chromosomal microarray. Data about clinical abnormalities of pure partial 16q duplications are incomplete because many individuals die during the perinatal period. We describe the clinical features of a 47-month-old Brazilian girl with 16q21q24.1 duplication. To the best of our knowledge, she is the first person with this specific chromosome segment duplication, and we compare her phenotype with the only reported individual alive with intermediate–distal pure 16q duplication.
Cytogenet Genome Res

中文翻译：

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de novo Pure 16q21q24.1 染色体重复的临床特征

16 号染色体长臂的纯部分重复很少见，很少有病例通过染色体微阵列进行描述。关于纯部分 16q 重复临床异常的数据不完整，因为许多人在围产期死亡。我们描述了 16q21q24.1 重复的 47 个月大巴西女孩的临床特征。据我们所知，她是第一个具有这种特定染色体片段重复的人，我们将她的表型与唯一报道的具有中间-远端纯 16q 重复的活着的个体进行了比较。
细胞遗传基因组研究