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...
Main Authors: | , , , , |
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Format: | Article |
Language: | Russian |
Published: |
MONIKI
2020-10-01
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Series: | Alʹmanah Kliničeskoj Mediciny |
Subjects: | |
Online Access: | https://www.almclinmed.ru/jour/article/view/1306 |