Background: Aberrant chromosomes can cause azoospermia but little is known about its molecular mechanism. Our aim is to explore any possible genetic defective to explain a given male infertility. Materials and Methods: An azoopsermic male was identified in a 23 years old male. G-banding and FISH confirmed the karyotype as chromosome insertion (18:7) (q22.1; q36.2q21.11). NGS was performed to an...

Among 17786 karyotyres performed in our center,during 18 years (1357-1375),1300(7.3%) cases of chromosome 21 aberration,including 1284(98.77%) of Down syndrome have been detected.1191 of cases (92.76%) born free trisomy 21:61 cases (4.75%) revealed translocation and 32 cases (2.4%) showed mosaic pattern.among the pateints,59 had robertsonian translocation,2 had translocation between chromosome ...

Background: The maternal age effect for trisomy is well known. However what is less established is whether certain women are more (or less) prone to segregation errors, independent of age. Trisomy arises primarily through maternal meiosis I chromosome segregation errors however the precise mechanism by which these errors occur is unclear. Current dogma attributes the origin of trisomy to malseg...

the karyotype of zagros tooth-carp, aphanius vladykovi (coad) has been investigated byexamining metaphase chromosomes spreads obtained from gill epithelial and kidney cells. the diploidchromosome number of this species was 2n=48. the karyotype consisted of 8 submetacentric and 40subtelocentric chromosomes (8sm+40 st). the arm number (nf) was 28. sex chromosomes werecytologically indistinguishab...

background and objectives: primary amenorrhea is not a disease but a symptom that may result from several quite different causes[nn1] . common hormonal cause of primary amenorrhea includes constitutional delay, hypothalamic –pituitary dysfunction, chronic systemic disease and absent ovarian function. the aim of this study was to estimate the incidence of the chromosomal abnormality referred for...

AIM To investigate whether mutations in the STK11/LKB1 gene and genes implicated in the colorectal adenoma-carcinoma sequence are involved in Peutz-Jeghers syndrome (PJS) related tumorigenesis. METHODS Thirty nine polyps and five carcinomas from 17 patients (from 13 families) with PJS were analysed for loss of heterozygosity (LOH) at 19p13.3 (STK11/LKB1 gene locus), 5q21 (APC gene locus), 18q...

protein tyrosine phosphatases (ptpases) regulate the tyrosine phosphorylation of target proteins in volved in several biological activities including cell proliferation and transformation. protein tyrosine phosphatase e (ptpe) contains duplicated ptpase-like domains and a short extracellular region. us ing the fluorescence in situ hybridization method, the gene encoding ptpe (locus symbol ptpre...