Y chromosome microdeletion in a father and his four infertile sons

A new case of Yq microdeletion transmitted from a normal father to two infertile sons.

During the last few years, microdeletions of the long arm of the Y chromosome, involving loci AZFa, AZFb, and AZFc, have been identified as a major cause of infertility, leading to the disruption of genes involved in spermatogenesis. These microdeletions are usually de novo mutations, but in six cases transmission from fertile fathers to infertile sons has been reported. In four cases, the tran...

Congenital diffuse Melanosis in a father and two sons

Congenital diffuse Melanosis is one of the rarest clinical manifestations of hereditary universal Melanosis and only few cases have been reported all over the world. The presented case is a 54-year-old man who presented to us complaining of erythematous annular lesions on his face and neck since 8 months ago. Diffuse pigmentation of his skin took our attention. According to the patient, d...

Loss of the AZFc region due to a human Y-chromosome microdeletion in infertile male patients.

Infertility is a major reproductive health threat; the frequency of male infertility due to Y-chromosome microdeletions is 13-18% in the human population; these microdeletions involve recurrent loss of three non-overlapping regions designated as AZFa, AZFb and AZFc, associated with spermatogenic failure. Several contradictory reports have been published regarding deletion frequency based on seq...

the association between y chromosome microdeletion and recurrent pregnancy loss

Prevalence and patterns of Y chromosome microdeletion in infertile men with azoospermia and oligzoospermia in Northeast China

BACKGROUND In some cases infertile men showed small deletions of specific genes in the Y chromosome. It had been confirmed, these deleted genes are greatly associated with spermatogenic failure. However, the frequency and the patterns of such microdeletions among infertile men are not clearly clarified. OBJECTIVE We sought to determine the frequency and the patterns of Y chromosome microdelet...