familial adenomatous polyposis (fap) is a hereditary autosomal dominant cancer syndrome, results from germ line mutation or deletion of the adenomatous polyposis coli (apc) gene on chromosome 5q21. patients with fap suffer from multiple polyps mainly at the colorectal region as well as other parts of the gastrointestinal tract, which has propensity to transform into carcinoma. fap has also been...

At present the pathogenesis and therapeutic effect of chronic myelomonocytic leukemia (CMML) is still not very clear. There are no specific molecular biology characteristics in it. We report a novel deletion in the Yq chromosome of a patient with CMML, as well as the treatment and prognosis, and review the relevant literature, and put forward that the Y chromosome abnormality may be involved in...

Background: Many advances have been made in reproductive medicine yet the spontaneous loss of a pregnancy remains the most common complication of pregnancy. The aetiology of spontaneous recurrent pregnancy loss (RPL) is multifactorial. Y chromosome microdeletions are found in approximately 7% of men with low sperm counts and, compared to the general population, a higher frequency of spontaneous...

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...

We report the case of a 33-year-old male presenting with bilateral gynaecomastia whose karyotype was mosaic with 60% of the cells showing an isochromosome for the short arm of the Y chromosome and 40% showing 45,X complement. Further investigation revealed evidence of a stage one seminoma of the right testis and complete azoospermia. He was treated with bilateral orchidectomy and adjuvant radio...

BACKGROUND The human Y chromosome is almost always excluded from genome-wide investigations of copy number variants (CNVs) due to its highly repetitive structure. This chromosome should not be forgotten, not only for its well-known relevance in male fertility, but also for its involvement in clinical phenotypes such as cancers, heart failure and sex specific effects on brain and behaviour. RE...

During male but not female mammalian meiosis, there is efficient apoptotic elimination of cells with unpaired (univalent) chromosomes at the first meiotic metaphase (MI) [1]. Apoptotic elimination of MI spermatocytes is seen in response to the univalent X chromosome of XSxr(a)O male mice [2], in which the X chromosome carries Sxr(a) [3, 4], the Y-chromosome-derived sex-reversal factor that incl...

BACKGROUND Deletion of the entire AZFb interval from the Y chromosome is strictly associated with azoospermia arising from maturation arrest during meiosis. Here, we describe the exceptional case of an oligozoospermic man, 13-1217, with an AZFb + c (P5/distal-P1) deletion. Through the characterization of this patient, and two AZFb (P5/proximal-P1) patients with maturation arrest, we have explor...

BACKGROUND Deletions of the AZF (azoospermia factor) subregions on the Y chromosome are accompanied by a diverse spectrum of spermatogenic disturbances ranging from hypospermatogenesis to total depletion of germ cells causing infertility. The AZF region encodes gene products which are candidates for the genetic control of spermatogenesis. Although it is known which genes are involved, a general...