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Updated: May 30, 2025

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
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Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

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基因组负46的印度儿童的亚微镜拷贝数变异,XY Gonadal Dysgenesis:使用比较基因组杂交的探索性研究

Sukanya Priyadarshini1, Uzma Shamim2, Anil Kumar1

  • 1Division of Pediatric Endocrinology, All India Institute of Medical Sciences, New Delhi, India.

Andrology
|January 28, 2025
PubMed
概括

副本数变异 (CNVs) 解释了46%的原因,XY性发育障碍 (DSD) 在43%的发生性腺失调 (GD) 患者中. 这项研究确定了新的CNV,包括19p13.3重复,为DSD病因学提供了新的见解.

关键词:
一个染色体微阵列.相对基因组杂交的比较基因组杂交性发育障碍 性发育障碍

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