A small supernumerary marker chromosome (sSMC) is a structurally abnormal chromosome. It is an additional chromosome smaller than one chromosome most often lacking a distinct banding pattern and is rarely identifiable by conventional banding cytogenetic analysis. The origin and composition of an sSMC is recognizable by molecular cytogenetic analysis. These sSMCs are seen in different shapes, including the ring, centric minute, and inverted duplication shapes. The effects of sSMCs on the phenotype depend on factors such as size, genetic content, and the level of the mosaicism. The presence of an sSMC causes partial tris- or tetrasomy, and 70% of the sSMC carriers are clinically normal, while 30% are abnormal in some way. In 70% of the cases the sSMC is de novo, in 20% it is inherited from the mother, and in 10% it is inherited from the father. An sSMC can be causative for specific syndromes such as Emanuel, Pallister-Killian, or cat eye syndromes. There may be more specific sSMC-related syndromes, which may be identified by further investigation. These 10 syndromes can be useful for genetic counseling after further study.

Background:Genetic factors are candidates for about 30% of male infertility with sperm production-related abnormalities. Y chromosome microdeletions are responsible for around 10% of male infertility. These microdeletions generally occur in azoospermia factor on the Yq. That is often associated with the quantitative reduction of sperm.Objective: The aim of this cross-sectional study was to determine the frequency of Yq microdeletions among idiopathic azoospermic, oligoasthenozoospermic, and oligospermic men in Shohada infertility center, Chaharmahal va Bakhtiari province.Materials and Methods: A total of 81 idiopathic azoospermic, oligoasthenozoospermic, and oligospermic infertile men were selected as cases and 81 fertile men assigned to control group. For molecular investigations, 13 sequence-tagged site markers were chosen from azoospermia factor (AZF) region for detection of Y chromosome microdeletions and amplified by two separate multiplex-polymerase chain reaction. The relationship between the AZF microdeletions and incidence of male infertility in the family, consanguineous parents, smoking, and the levels of reproductive hormones among infertile men were investigated.Results:The total frequency of the microdeletions was 6.17% (2 cases in azoospermic, 3 cases in oligoasthenozoospermic subgroups, and none in the oligospermic participants and the control group). Most deletions (3.7%) were seen in the AZFb followed by the AZFc (2.46%) and none in AZFa. No significant association was seen between the microdeletions and clinical characteristics.Conclusion:Although the frequency of Yq chromosome microdeletions in Chaharmahal va Bakhtiari province is lower than the mean frequency of Iran, the frequency is comparable to those reported by some studies in Iran.

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Introduction: Up-regulation of phospholipase D (PLD) is functionally related to tumorigenesis and oncogenic signals. Chrysin, caffeic acid phenethyl ester (CAPE) and ethanolic extract of propolis (EEP) are three safe compounds which have been shown to possess antiproliferative, antioxidant, anti-inflammatory and antineoplastic properties. In this study, the effects of these three compounds on PLD1 gene expression were examined in AGS cell line. Methods: After determining the appropriate concentrations of EEP, CAPE, and chrysin, AGS cells were cultured in mediums with proper ratios of the compounds. AGS cells were maintained in exponential growth and the culture mediums refreshed every other day. Finally, after extracting total RNA from AGS cells, real-time PCR was performed to evaluate the mRNA expression of PLD1 in the presence of each compound. Results: CAPE decreased the mRNA level of PLD1 gene in a dose-dependent manner. A solution with 30 μM concentration of CAPE was the effective dose in comparison to control group as well as 15 and 20 μM concentrations of the compound, whereas no changes were observed in the presence of EEP and chrysin. Conclusion: Taken together, the results of the study indicated that CAPE might exert its anti-neoplastic effect by targeting PLD1 expression in AGS cell line.