Infertility is defined as the inability to conceive a child after one year of regular unprotected intercourse; it is a major health problem affecting about 10-15% of all couples. Infertility is due to a male factor in approximately 50% of cases. The human Y chromosome contains genes necessary for gonadal differentiation into a testis and genes for complete spermatogenesis. We examined the frequ...

Objective: Advances in the science of genetics and development assisted reproductive techniques focus on genetic causes infertility. The aim this research is to reveal abnormalities terms sex chromosome aneuploidy Y microdeletions. Material Methods: A total 350 patients with azoospermia or severe oligozoospermia were selected. After general examination laboratory investigations performed, carto...

M. SIMONI, E. BAKKER, M. C. M. EURLINGS, G. MATTHIJS, E. MORO, C. R. MUÈ LLER and P. H. VOGT Institute of Reproductive Medicine of the University, MuÈnster, Germany, Department of Human and Clinical Genetics, Leiden, The Netherlands, Center for Human Genetics, University of Leuven, Belgium, Patologia Medica III, University of Padova, Italy, Institute of Human Genetics, University of WuÈrzburg, ...

We have created a human chromosomal map of the location known and candidate genes involved in primary lymphedema (PLE). This should facilitate further discovery provide basis for understanding microdeletions which cause lymphedema.

AIMS The Y chromosome accumulates male-related genes including sex-determining region of Y-chromosome (SRY) and several spermatogenesis-related genes. The long arm contains azoospermia factor (AZF) region (including sub-regions AZFa, AZFb and AZFc). Microdeletions in this region are responsible for azoospermia and oligospermia and result in the male infertility. The aim of this study was to ana...

BACKGROUND Male infertility due to severe oligozoospermia and azoospermia has been associated with a number of genetic risk factors. METHODS In this study 150 men from couples requesting ICSI were investigated for genetic abnormalities, such as constitutive chromosome abnormalities, microdeletions of the Y chromosome (AZF region) and mutations in the cystic fibrosis transmembrane conductance ...

this study was designed to determine the frequency of y chromosome azf (azoospermia factor ) subregions, microdeletions in patients with idiopathic nonobstructive azoospermia and severe oligozoospermia. subjects included 40 men who had been referred to infertility clinics for assisted reproduction, 37 were azoospermic and 3 had severe oligospermia. medical history and physical exam revealed no ...

Background and Aims: Azoospermia factor (AZF) region of the Y-chromosome has several genes which are responsible for normal spermatogenesis. Microdeletions of these genes are associated with azoospermia and oligospermia. These microdeletions are too small to be detected by karyotyping. They can be easily identified using polymerase chain reaction. The aim of this study is to determine the frequ...

Sex reversal in males with female karyotypes is likely to be caused by the presence of cytogenetically undetectable Y-chromosomal DNA sequences that include the testis-determining gene(s). Studying a total of sixteen 46,XX males and one 47,XXX male, we detected Y-chromosomal DNA in 13 of the XX males (i.e. 80%) and in the 47,XXX male. The amount of Y-chromosomal DNA present in the patients vari...