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环染色体14有一个终端14q32.33删除删除

Juli-Anne Gardner^1,2, Nicholas Haslett^1,2, Heather G Giguere¹

¹Larner College of Medicine, University of Vermont, Burlington, VT.

Journal of the Association of Genetic Technologists

|June 2, 2024

概括

环染色体14综合征是一种罕见的疾病,导致发育迟缓和. 本报告详细介绍了一个新的病例,有助于对这种染色体异常的有限理解.

科学领域:

遗传学是一个遗传学.
染色体异常染色体异常
儿科神经学儿科神经学

背景情况:

环染色体14是一种罕见的染色体异常.
环染色体14综合征呈现全球发育迟缓,耐药性,小头症和眼睛问题.
在医学文献中记录的病例不到100例.

研究的目的:

描述一个环染色体14的情况.
详细介绍它的临床表现在一个10岁的女性.
为了对这种罕见的疾病的文献做出贡献.

主要方法:

案例报告. 情况报告.
临床表现分析.

主要成果:

一个10岁的女性与环染色体14被确定.
记录了临床特征.

结论:

这一案例增加了对14环染色体综合征的有限理解.
需要进一步的研究才能充分描述这种罕见的疾病.

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