与 12q13.13 微缺失有关的先天性手部差异。

Howard Chu, Daisy Parsons, James Metcalfe, Alexander Armstrong
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引用次数: 0

摘要

我们报告了一个 15 岁男孩的病例,他的染色体在 12q13.13 区域有一个新缺失,表现为先天性手部差异。本病例强调了识别此类遗传异常及其影响的临床意义。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Congenital hand difference associated with 12q13.13 microdeletion.

We report the case of a 15-year-old boy with a de novo chromosomal deletion in the 12q13.13 region, presenting with congenital hand difference. This case emphasizes the clinical significance of recognizing such genetic anomalies and their implications.

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