Objective To develop a multiplex PCR protocol for routine screening of microdeletions on the Y chromosome Methods Five multiplex sets were established and Y chromosome microdeletions screening were carried out in 26 azoospermic men who undertook ICSI and 30 azoospermic men who undertook testicular biopsy. Results In 56 azoospermic men, 5 patients were found with AZFc/DAZ microdeletions, 2 patie...

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: microdeletions of the azoospermia factor locus of the long arm of y chromosome are an etiological factor of severe oligozoospermia or azoospermia. objective: the aim of this study was to investigate the prevalence of y-chromosome microdeletions in azf region and their role in infertility in pakistani population. materials and methods: the type of deletions in azf locus were detected...

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 ...