Complex chromosome translocations are structural chromosomal rearrangements involving three or more chromosomes and more than two breakpoints. A complex chromosome rearrangement was detected in a phenotypically normal female patient that was referred to the hospital for genetic counseling due to reproductive failure. A cytogenetic evaluation was performed, according to standard method of chromosomal analysis, using G-banding technique. The patient's karyotype showed a balanced complex chromosome rearrangement (BCCR) involving chromosomes 1, 8, and 11 with three breakpoints 1p31, 8q13, and 11q23. The karyotype designed according to ISCN (2013), is 46,XX,t(1;8;11)(p31;q13;q23) (8qter→8q13::1p31→1qter;8pter→8q13::11q23→11qter;11pter→11q23::1p31→1pter). Additionally, the proband's mother and brother were tested, resulting in the same exact translocation. In this study, we describe all possible meiotic segregations regarding this translocation, as well as the clinical phenotypes which could arise, if unbalanced products of conception survive. This is a rare case of familial complex chromosome rearrangement, giving a view for its reproductive consequences.
The aim of our study was to determine the type and frequency of chromosomal aberrations and polymorphisms in men with different degrees of spermatogenic failure in comparison to men with normozoospermia, in order to find correlations between cytogenetic findings and the abnormal results of semen analysis. In our study, we performed cytogenetic analysis in 901 infertile men, divided into five groups according to semen analysis—normozoospermia (86), asthenozoospermia (394), oligoasthenozoospermia (182), severe male factor (100), and azoospermia (139). The frequency of polymorphisms was similar in all groups (11–16%, without significant differences). The frequency of numerical and structural aberrations increases with the degree of the spermatogenic failure (3.5% in normozoospermia, 5.6% in asthenozoospermia, 9.8% in oligoasthenozoospermia, 9% in severe male factor, and 13.5% in azoospermia). We found a significantly higher incidence of numerical chromosomal aberrations in severe male factor (7%) and azoospermia (9.3%). Oligoasthenozoospermia occured in 45% of cases with translocation, compared to 20% in the group with a normal karyotype. We revealed that chromosomal translocations are tightly associated with oligoasthenozoospermia, whereas numerical chromosomal aberrations—with severe male factor and azoospermia. The impact of chromosome polymorphisms on male infertility should be studied in greater detail.
Purpose: Platanus pollen is a serious cause of asthma, allergic rhinitis and conjunctivitis in many European countries. The aim of the present pilot study is to investigate the sensitization to 3 different plane tree species in a group of patients with pollinosis. Materials and methods: 21 patients were surveyed - 11 men and 10 women. A skin prick test was performed with a set of allergens: Grass pollen mix; Betulaceae pollen mix; Platanusorientalis; Platanusacerifolia; Platanusoccidentalis. Results: 95% of patients are sensitized to grass pollen, with moderate positive skin reactions predominating. 86% have a co-sensitization to tree pollens also, particularly to the birch tree family. Only 3 (14%) of the studied patients showed slight positive skin tests to the studied plane tree allergens, with no significant difference in sensitization to studied Platanus species (p>0,05). Conclusion: At present, the sensitization to different Platanus species is not comparable to that of grass or birch pollen. However, it will be necessary to conduct new long-term, large-scale studies to prove whether Platanus pose a real threat to people in urban areas. The results of this interdisciplinary study are important both for clinical allergologists and for landscape architects and ecologists involved in the planning and management of urban green infrastructure.
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