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A de novo marker chromosome 15 in a child with isolated developmental delay
Journal of Genetics ( IF 1.5 ) Pub Date : 2020-09-12 , DOI: 10.1007/s12041-020-01231-9
Madhavan Jeevan Kumar , Kalpana Gowrishankar , Venkatasubramanian Hemagowri , Jayarama Kadandale

We report a rare case of a 14-month-old male child who was referred for developmental delay. Clinical examination revealed a hypotonic infant with speech delay and no dysmorphic features. The banding cytogenetics revealed a small supernumerary marker chromosome. Upon silver staining, the marker showed the presence of satellite regions on either ends. Further, analysis using fluorescence in situ hybridization on marker chromosome revealed its origin from chromosome 15.

中文翻译:

孤立性发育迟缓儿童的新标记染色体 15

我们报告了一个 14 个月大的男孩因发育迟缓而被转诊的罕见病例。临床检查显示一个低渗婴儿有语言延迟且没有畸形特征。条带细胞遗传学揭示了一个小的多余标记染色体。银染后,标记显示两端均存在卫星区域。此外,在标记染色体上使用荧光原位杂交的分析揭示了其起源于 15 号染色体。
更新日期:2020-09-12
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