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: | 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 |
Similar Items
-
Detection of a rare de novo 18p terminal deletion with inverted duplication in a Chinese pregnant woman
by: Jianjiang Zhu, et al.
Published: (2019-09-01) -
Inverted duplication, triplication and quintuplication through sequential breakage‐fusion‐bridge events induced by a terminal deletion at 5p in a case of spontaneous abortion
by: Hongyan Chai, et al.
Published: (2019-10-01) -
7q36 deletion and 9p22 duplication: effects of a double imbalance
by: Pelegrino Karla de, et al.
Published: (2013-01-01) -
How does terminal 21q22 deletion really manifest? Delineation based on prenatal diagnosis and literature review
by: Miroslaw Wielgos, et al.
Published: (2021-11-01) -
Inv dup del(10q): Identification by fluorescence in situ hybridization and array comparative genomic hybridization in a fetus with two concurrent chromosomal rearrangements
by: Chih-Ping Chen, et al.
Published: (2012-06-01)