Background. Aromatase inhibitors (AIs) can significantly improve semen parameters in infertile men. In this study, we investigated the efficacy of AIs for azoospermia a Chinese population with AZFc microdeletion. Aims. Patients microdeletion who were treated analyzed retrospectively by collecting clinical data, including their hormone profile and treatment outcome. divided into those sperm afte...

OBJECTIVE To study a family with inner ear malformations and sensorineural hearing loss. DESIGN Clinical, radiological, and genetic study of the members of a family with different degrees of sensorineural hearing loss. RESULTS The males in the family manifested profound congenital hearing loss with severe inner ear malformations, while the only affected female had progressive hearing loss t...

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...

The widespread use of whole genome analysis based on array comparative genomic hybridization in diagnostics and research has led to a continuously growing number of microdeletion and microduplication syndromes (MMSs) connected to certain phenotypes. These MMSs also include increasing instances in which the critical region can be reciprocally deleted or duplicated. This review catalogues the cur...

Background The human Y chromosome is essential for human sex determination and male germ cell development and maintenance. In 1996, Vogt et al. identified three recurrently deleted regions in Yq11 termed the azoospermia factor (AZF). The AZF region is subdivided into three non-overlapping sub-regions called AZFa, AZFb and AZFc and microdeletion in these regions is the most important etiology of...

background: infertility is a health problem which affects about 10-20% of married couples. male factor infertility is involved approximately 50% of infertile couples. most of male infertility is regarding to deletions in the male-specific region of the y chromosome. objective: in this study, the occurrence of deletions in the azf region and association between infertility and paternal age were ...

We report on a patient with NF1 microdeletion and clinical manifestations that fulfill the diagnostic criteria for neurofibromatosis type 1 but also presenting features reminiscent of Proteus syndrome.

BACKGROUND Little information is available regarding the penetrance of 1q21.1 copy number variants (CNVs). In the present study, we explored the clinical significance of 1q21.1 microdeletion or microduplication. METHODS In four families, chromosome karyotype was analyzed using G-banding karyotype analysis technology. CNVs were detected using array-comparative genomic hybridization (aCGH) and ...

Congenital malformations resulting in late abortions and stillbirths affect the economic wellbeing of producers and the welfare of cattle in breeding programs. An extremely high incidence of stillbirths of "half-sized" calves of normal karyotype and uninflated lungs was diagnosed in the progeny of the Finnish Ayrshire (Bos taurus) bull--YN51. No other visible anatomical abnormalities were appar...