A clinical case of inverted duplication with terminal deletion of the short arm of chromosome 5

The 5p inverted duplication deletion syndrome, also known as inv dup del 5p, is a rare genetic disorder with a prevalence of below 1:1 000 000, whose underlying abnormality lies in a segmental trisomy and simultaneous segmental monosomy of the short arm of chromosome 5. The syndrome was first descri...

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Bibliographic Details
Main Authors: O. A. Solovova, N. V. Oparina, Yu. Yu. Kotalevskaya, S. G. Kalinenkova, A. Sh. Latypov
Format: Article
Language:Russian
Published: MONIKI 2020-10-01
Series:Alʹmanah Kliničeskoj Mediciny
Subjects:
Online Access:https://www.almclinmed.ru/jour/article/view/1306