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Characterization of A 5.8-Mb Interstitial Deletion of Chromosome 3p in A Girl With 46, XX, Inv (7) DN Karyotype and Phenotypic Abnormalities by Inna Sergienko is a document available to read on EtoBox.

What is Characterization of A 5.8-Mb Interstitial Deletion of Chromosome 3p in A Girl With 46, XX, Inv (7) DN Karyotype and Phenotypic Abnormalities about?

This case report describes a 5.8-Mb interstitial deletion of chromosome 3p in a girl with a 46,XX,inv(7)dn karyotype, presenting with neurodevelopmental delay, growth retardation, and various dysmorphic features. The deletion was identified using array-based comparative genomic hybridization and is the first isolated cryptic proximal interstitial 3p deletion reported. The study emphasizes the importance of genome-wide molecular methods in detecting cryptic imbalances in patients with phenotypic abnormalitie

Author

Inna Sergienko

Language

EN