Gene deletions in an infertile man with sperm fibrous sheath dysplasia | Zendy

B. Baccetti | Zendy; Giulia Collodel | Zendy; M. Estenoz | Zendy; D. Manca | Zendy; Elena Moretti | Zendy; Paola Piomboni | Zendy

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Gene deletions in an infertile man with sperm fibrous sheath dysplasia

Author(s) -

B. Baccetti,

Giulia Collodel,

M. Estenoz,

D. Manca,

Elena Moretti,

Paola Piomboni

Publication year - 2005

Publication title -

human reproduction

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.446

H-Index - 226

eISSN - 1460-2350

pISSN - 0268-1161

DOI - 10.1093/humrep/dei126

Subject(s) - asthenozoospermia , biology , sperm , fluorescence in situ hybridization , andrology , male infertility , infertility , pathology , genetics , chromosome , gene , medicine , pregnancy

Asthenozoospermia may sometimes be related to genetic structural defects of the sperm tail detectable by transmission electron microscopy. Dysplasia of the fibrous sheath (DFS) is a genetic sperm defect, characterized by dysplastic development of the axonemal and periaxonemal cytoskeleton. We report the case of an infertile man with normal sperm count and total sperm immotility in which dysplasia of the fibrous sheath, Akap3, Akap4 gene deletions, meiotic segregation of chromosomes 18, X and Y and Y microdeletions were investigated.

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