A de novo marker chromosome 15 in a child with isolated developmental delay.

Autor: Kumar, Madhavan Jeevan, Gowrishankar, Kalpana, Hemagowri, Venkatasubramanian, Kadandale, Jayarama
Zdroj: Journal of Genetics; 2020, Vol. 99 Issue 1, p1-4, 4p
Abstrakt: 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. [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index
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