Case Report: Y Chromosome Microdeletion in an Infertile Patient with Mosaic Klinefelter Syndrome

A Rare Case of Klinefelter Syndrome Patient with Quintuple Mosaic Karyotype, Diagnosed by GTG-Banding and FISH

Klinefelter syndrome: Case report.

OBJECTIVES.: The aim of this work is to describe the problems of child dentistry affected by Klinefelter's syndrome. METHODOS.: Through the presentation of a clinical case that was followed by a Pediatric Dentistry, University Sapienza of Rome. RESULT.: Interceptive therapy aims to eliminate the functional interference that occurs during growth. CONCLUSION.: For this reason it's a must for t...

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...

Chromosome 15q24 microdeletion syndrome

Chromosome 15q24 microdeletion syndrome is a recently described rare microdeletion syndrome that has been reported in 19 individuals. It is characterized by growth retardation, intellectual disability, and distinct facial features including long face with high anterior hairline, hypertelorism, epicanthal folds, downslanting palpebral fissures, sparse and broad medial eyebrows, broad and/or depr...

Prepubertal Diagnosis of Klinefelter Syndrome: A Rare Case Report

Klinefelter syndrome is characterised by advancing testicular function deterioration causing aspermatogenesis and androgen deficiency. Klinefelter patients characteristically have complete male sex differentiation, and genital anomalies are infrequently associated. Penoscrotal malformations at birth are very rare in this syndrome. Nonetheless, it is important to know the association, as one of...