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Chromosome microarray analysis: a case report of infertile brothers with CATSPER gene deletion

✍ Scribed by Jaiswal, Deepika; Singh, Vertika; Dwivedi, U.S.; Trivedi, Sameer; Singh, Kiran

Book ID
121693246
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
669 KB
Volume
542
Category
Article
ISSN
0378-1119

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✦ Synopsis

We present the case of two brothers who were referred to a male infertility clinic for infertility workup. Conventional chromosome analysis and Y chromosome microdeletions did not reveal any genetic alterations. We utilized the chromosome microarray analysis (CMA) to identify novel and common variations associated with this severely impaired spermatogenesis cases. CMA specific results showed a common deletion in the 15q15.3 region that harbors genes like CATSPER2, STRC and PPIP5K1 in both cases (M18 and M19). In addition we identified small duplication in X and 11 chromosomes of M19. This is the first familial case report from India on occurrence of CATSPER gene deletion in human male infertility.

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