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二心重组染色体18由于母体的偏心逆转,由阵列CGH分析

Özlem Anlaş¹, Akgün Ölmez², Birsen Karaman³

¹Department of Medical Genetics, Adana City Training and Research Hospital, University of Health Sciences, Adana, Turkey.

Molecular syndromology

|June 16, 2023

概括

这项研究报告了第一个患有双中心染色体18重排的儿童病例,该病例源于母亲的对中心逆转. 这种遗传异常导致了多种先天性异常和严重的发育迟缓.

科学领域:

人类遗传学人类遗传学
临床细胞遗传学
生殖遗传学生殖遗传学

背景情况:

染色体异常影响0.5-0.8%的活产婴儿,经常导致发育和形态缺陷.
偏心逆转是染色体内重新排列,可以导致携带者染色体不平衡的雌同体.

关键词:

阵列 CGH 的数组.在C-乐队.二心染色体 18 的二心染色体 18.鱼类鱼类是一种鱼类.抛中心逆转 (Paracentric inversion) 是一种反中心逆转.

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