Nonmosaic trisomy involving 19p13.3p13.2 is a very uncommon abnormality. At present, only 12 cases with this genetic condition have been reported in the literature. However, the size of the trisomic fragment is heterogeneous and thus, the clinical spectrum is variable. Herein, we report the clinical and cytogenetic characterization of a 5-year-old boy with nonmosaic trisomy 19p13.3p13.2 (7.38 Mb), generated by a derivative Y chromosome resulting from a de novo unbalanced translocation t(Y;19)(q12;p13.2). We demonstrated the integrity of the euchromatic regions in the abnormal Y chromosome to confirm the pure trisomy 19p. Our patient shares some clinical features described in other reported patients with pure trisomy 19p, such as craniofacial anomalies, developmental delay, and heart defects. Different to previous reports, our case exhibits frontal pachygyria and polymicrogyria. These additional features contribute to further delineate the clinical spectrum of trisomy 19p13.3p13.2.

中文翻译：

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非镶嵌三体性 19p13.3p13.2 由患有厚脑回和多小脑回的患者中罕见的不平衡 t(Y;19)(q12;p13.2) 易位引起

涉及 19p13.3p13.2 的非镶嵌三体性是一种非常罕见的异常。目前，文献中仅报道了 12 例患有这种遗传病的病例。然而，三体片段的大小是异质的，因此临床谱是可变的。在此，我们报告了一名 5 岁男孩的临床和细胞遗传学特征，该男孩患有非镶嵌三体性 19p13.3p13.2 (7.38 Mb)，由从头不平衡易位 t(Y;19) 产生的衍生 Y 染色体产生（ q12；p13.2）。我们证明了异常 Y 染色体中常染色质区域的完整性，以确认纯 19p 三体性。我们的患者与其他报道的纯 19p 三体患者有一些相似的临床特征，例如颅面异常、发育迟缓和心脏缺陷。与之前的报道不同，我们的病例表现出额叶厚回和多小回。这些附加特征有助于进一步描绘 19p13.3p13.2 三体性的临床谱。