objective angelman syndrome (as) is a genetically determined syndrome that has a unique behavioral phenotype. this syndrome is described as jerky ataxia and an unusual happy facial expression with pathological laughter. severe mental retardation is a unique feature of the syndrome, together with microbrachycephaly and abnormal electroencephalographic findings with or without clinical seizures. ...

This report describes cytological, genetic and biochemical studies designed to characterize two gamma-radiation induced, apparent "underproducer" variants of the rosy locus (ry:3-52.0), ryps1149 and ryps11136. The following observations provide a compelling basis for their diagnosis as heterochromatic position effect variants. They are associated with rearrangements that place heterochromatin a...

BACKGROUND The most frequently observed major consequences of ionizing radiation are chromosomal lesions and cancers, although the entire genome may be affected. Owing to its haploid status and absence of recombination, the human Y chromosome is an ideal candidate to be assessed for possible genetic alterations induced by ionizing radiation. We studied the human Y chromosome in 390 males from t...

INTRODUCTION The aim of study is determining the cost-effectiveness of detection analysis in the presence of exceptional patients who have mild semen disorders, and beware of unnecessary varicocele repairs; and to ascertain whether patients with clinical varicocele should undergo Y chromosome (Yq) microdeletion analysis as a routine procedure. MATERIAL AND METHODS Varicocele with reflux was d...

During male meiosis, the X and Y chromosomes are transcriptionally silenced, a process termed meiotic sex chromosome inactivation (MSCI). Recent studies have shown that the sex chromosomes remain substantially transcriptionally repressed after meiosis in round spermatids, but the mechanisms involved in this later repression are poorly understood. Mice with deletions of the Y chromosome long arm...

Although histologic features enable an accurate diagnosis in most renal carcinomas, overlapping morphologic findings between some renal neoplasms make subclassification difficult. Some renal carcinomas show papillary architecture but are composed extensively of cells with clear cytoplasm, and it is unclear whether they should be classified as clear cell renal cell carcinomas or papillary renal ...

The sex related height difference in humans is thought to be caused mainly by two components: first, a hormonal component determined by the sex dimorphism of bioactive gonadal steroids, and, second, a genetic component attributed to a Y specific growth gene, GCY. Despite extensive mapping attempts for this gene on the human Y chromosome, its precise position remains unknown. We have recently pr...

The sex related height difference in humans is thought to be caused mainly by two components: first, a hormonal component determined by the sex dimorphism of bioactive gonadal steroids, and, second, a genetic component attributed to a Y specific growth gene, GCY. Despite extensive mapping attempts for this gene on the human Y chromosome, its precise position remains unknown. We have recently pr...