46,XY,r(8)/45,XY,−8 Mosaicism as a Possible Mechanism of the Imprinted Birk-Barel Syndrome: A Case Study

46,XY,r(8)/45,XY,−8 Mosaicism as a Possible Mechanism of the Imprinted Birk-Barel Syndrome: A Case Study

Ring chromosome 8 (r(8)) is one of the least frequent ring chromosomes. Usually, maternal chromosome 8 forms a ring, which can be lost from cells due to mitotic instability. The 8q24 region contains the imprinted <i>KCNK9</i> gene, which is expressed from the maternal allele. Heterozygou...

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Bibliographic Details
Main Authors: Anna A. Kashevarova, Tatyana V. Nikitina, Larisa I. Mikhailik, Elena O. Belyaeva, Stanislav A. Vasilyev, Mariya E. Lopatkina, Dmitry A. Fedotov, Elizaveta A. Fonova, Aleksei A. Zarubin, Aleksei A. Sivtsev, Nikolay A. Skryabin, Lyudmila P. Nazarenko, Igor N. Lebedev
Format: Article
Language:English
Published: MDPI AG 2020-12-01
Series:Genes
Subjects:
ring chromosome 8
invdupdel(8p)
Birk-Barel syndrome
<i>KCNK9</i>
imprinting
Online Access:https://www.mdpi.com/2073-4425/11/12/1473

Internet

https://www.mdpi.com/2073-4425/11/12/1473

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