AIM To estimate the prevalence of chromosomal abnormalities and Y chromosome microdeletion among men with azoospermia and severe oligozoospermia and its correlation with successful surgical sperm retrieval. SETTING AND DESIGN A prospective study in a tertiary level infertility unit. MATERIALS AND METHODS In a prospective observation study, men with azoospermia and severe oligozoospermia (co...

BACKGROUND Mutations and deletions of the homeobox transcription factor gene SHOX are known to cause short stature. The authors have analysed SHOX enhancer regions in a large cohort of short stature patients to study the importance of regulatory regions in developmentally relevant genes like SHOX. METHODS The authors tested for the presence of copy number variations in the pseudoautosomal reg...

This study was carried out to analyze the vertical transmission of Yq AZFc microdeletions from father to son in infertile Han Chinese families to investigate genetic factors and family background affecting fertility status. The peripheral blood of infertile males in 19 Han families was extracted and screened with modified multiplex polymerase chain reaction (PCR). Family trees were drawn accord...

We describe the clinical characterization, molecular analyses, and genetic mapping of a distinct genetic condition characterized by craniosynostosis, delayed closure of the fontanel, cranial defects, clavicular hypoplasia, anal and genitourinary malformations, and skin eruption. We have identified seven patients with this phenotype in four families from different geographic regions and ethnic b...

Chromosome 22q11 aberrations substantially increase the risk for developing schizophrenia. Although micro-deletions in this region have been extensively investigated in different populations across the world, little is known of their prevalence in African subjects with schizophrenia. We screened 110 African Xhosa-speaking participants with schizophrenia for the presence of micro-deletions. As f...

background: wide range of disorders ranging from genetic disorders to coital difficulties can influence male fertility. in this regard, genetic factors are highlighted as the most frequent, contributed to 10-15%, of male infertility causes. objective: to investigate the influence of genetic abnormalities on semen quality and reproductive hormone levels of infertile men from northeast china. mat...

Three unrelated patients with similar microdeletions of chromosome 14q32.11 shared phenotypes including language and developmental delay, four overlapping genes -CALM1, TTC7B, PSMC1, RPS6KA5 have been presented. All are expressed in the brain haploinsufficiency scores, which reflect low tolerance to loss function variation. An insight on region, may influence resulting phenotype has provided. G...

Sotos syndrome is caused by the haploinsufficiency of the NSD1 gene located in 5q35. More than 70% of the Japanese cases carry microdeletions encompassing of this gene, while point mutations are common in Caucasians. Only 15 familial cases of Sotos syndrome have been reported and all cases shown to have not microdeletions but point mutations. We identified the first Japanese familial case (moth...