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Copy‐number analysis of Y‐linked loci in young men with non‐obstructive azoospermia: Implications for the rarity of early onset mosaic loss of chromosome Y by Erina Suzuki; Yoshitomo Kobori; Momori Katsumi; Kikumi Ushijima; Toru Uchiyama; Hiroshi Okada; Mami Miyado; Maki Fukami is a Medicine article available to read on EtoBox.

What is Copy‐number analysis of Y‐linked loci in young men with non‐obstructive azoospermia: Implications for the rarity of early onset mosaic loss of chromosome Y about?

## Abstract ## Purpose Mosaic loss of chromosome Y (mLOY) is a common feature in elderly men. If mLOY can also occur in young men, it may lead to spermatogenic failure due to loss of spermatogenic genes. Indeed, previous studies detected the 45,X/46,XY karyotype in a few young men with spermatogenic failure. The present study aimed to clarify the frequency of cryptic mLOY in reproductive‐aged men with spermatogenic failure. ## Methods We studied 198 men at ages 24‐55 years who presented with etiology‐unknown non‐obstructive azoospermia. Prior this study, these patients underwent G‐banding analysis for 20 leukocytes and were found to have 46,XY karyotype. We analyzed copy numbers of chromosome Y in blood cells by using semi‐quantitative multiplex PCR for __AMELY__/__AMELX__, array‐based comparative genomic hybridization (CGH) for the __AMELY__ locus, and droplet digital PCR for __SRY__, __USP9Y__, and __UTY__. ## Results Multiplex PCR showed borderline low __AMELY/AMELX__ ratios in three patients. However, for the three patients, CGH excluded deletion of the __AMELY__ locus, and droplet digital PCR suggested preserved copy numbers of all tested loci. ## Conclusion This study highlig

Who reads Copy‐number analysis of Y‐linked loci in young men with non‐obstructive azoospermia: Implications for the rarity of early onset mosaic loss of chromosome Y?

Author

Erina Suzuki; Yoshitomo Kobori; Momori Katsumi; Kikumi Ushijima; Toru Uchiyama; Hiroshi Okada; Mami Miyado; Maki Fukami

Publisher

Springer Japan; Wiley (John Wiley & Sons); John Wiley and Sons Inc.; Wiley (ISSN 1445-5781)

Published

2020

Language

EN

Field

Medicine (Health Sciences)