1/52. Intracytoplasmic sperm injection pregnancy with trisomy 20p and monosomy 22q in a newborn resulting from a balanced paternal translocation.In infertile men who carry a balanced reciprocal translocation, intracytoplasmic sperm injection (ICSI) may induce a pregnancy with an abnormal karyotype. This report describes a previously unreported paternal reciprocal translocation leading to a chromosomally unbalanced ICSI pregnancy. The triplet pregnancy resulted in 1 normal girl, 1 physically normal boy with the same balanced paternal translocation, and a severely malformed boy with trisomy 20p and monosomy 22q who died in the neonatal period.- - - - - - - - - - ranking = 1keywords = translocation (Clic here for more details about this article) |
2/52. Male infertility associated with a unique 8;22 translocation.Proper evaluation of male infertility includes a careful history, physical examination, semen analysis, and karyotyping. Molecular cytogenetic analysis may also be necessary to further delineate the karyotype. Following the above approach, we found an apparently unique 8;22 translocation in a male patient with infertility but few other phenotypic manifestations. Delineating the exact genetic basis of infertility is important in view of the most recent advances in reproductive technology such as in vitro fertilization and intracytoplasmic sperm injection. patients utilizing these emerging techniques need to be properly counseled as to their risks of transmitting these chromosomal abnormalities to their offspring.- - - - - - - - - - ranking = 0.71428571428571keywords = translocation (Clic here for more details about this article) |
3/52. Chromosomal translocation 3;22 in an infertile man.OBJECTIVE: To present the first case of an infertile male with a normal phenotype and chromosomal translocation 3;22. DESIGN: Case report. SETTING: POVISA Medical Center. PATIENT(S): A 45-year-old man with primary infertility for 13 years and with different partners; the patient has a family history of recurrent miscarriages and low fertility. INTERVENTION(S): Lymphocytic karyotype and electron microscopy. MAIN OUTCOME MEASURE(S): physical examination and semen analysis. RESULT(S): The semen analysis revealed oligoasthenoteratospermia. The lymphocytic karyotype detected a translocation 3;22, and electron microscopy showed a lack of the central microtubule pair and peripheral doublet. CONCLUSION(S): An association between translocation 3;22 and other abnormalities in infertile males has been reported, but no such association has ever been described in men whose only clinical manifestation is infertility.- - - - - - - - - - ranking = 1.0189890768251keywords = translocation, chromosomal translocation (Clic here for more details about this article) |
4/52. Nonrobertsonian translocation t(6;11) is associated with infertility in an oligoazoospermic male.OBJECTIVE: To analyze an unusual nonrobertsonian translocation t(6;11) found in an infertile, oligoazoospermic, but otherwise apparently healthy man. DESIGN: Case report with review of the scientific literature. SETTING: Academic research environment. PATIENT(S): Infertile, oligoazoospermic, but otherwise apparently healthy man. INTERVENTION(S): Peripheral blood lymphocytes were obtained for karyotyping, and metaphases were studied by standard GBG, RBG, and CBG banding procedures. MAIN OUTCOME MEASURE(S): sperm count, morphology, and GBG, RBG, and CBG banding. RESULT(S): A karyogram revealed a nonrobertsonian balanced translocation t(6;11) with breakpoints at 6q15 and 11p15, as shown by R-, G-, and C-banding. CONCLUSION(S): Physical contact of unpaired autosomal material with sex chromosomes, which leads to spermatogenic arrest, may be one of the factors that accounts for infertility in men with autosomal aberrations.- - - - - - - - - - ranking = 0.85714285714286keywords = translocation (Clic here for more details about this article) |
5/52. A 45,X sterile male with Yp disguised as 21p.An azoospermic male was found to have, by means of banding techniques, a 45,X karyotype including a monocentric chromosome 21 with an euchromatic short arm that looked similar to Yp. This rearranged chromosome was further characterized by FISH with a whole y chromosome paint and the alphoid repeats DYZ3 and D13Z1/D21Z1; the former probe gave a positive signal onto such a peculiar arm without spreading into the long arm, whereas the alphoid repeats revealed an apparent compound centromere with Y- and 21-sequences. Therefore, an unbalanced Y;21 whole arm translocation was concluded and the karyotype written as 45,X.ish der(Y;21)(p10;q10)(wcpY ,DYZ3 ,D13Z1/D21Z1 ). This patient represents the first case of a Y;21 translocation in an apparent 45,X male, constitutes the fifth instance of a 45,X sterile male, and conforms to previously established karyotype-phenotype correlations.- - - - - - - - - - ranking = 0.28571428571429keywords = translocation (Clic here for more details about this article) |
6/52. Infertile spermatozoa in a human carrier of robertsonian translocation 14;22.OBJECTIVE: To present the ultrastructural, functional, and chromosomal analyses of spermatozoa from an infertile man with normal phenotype and chromosomal translocation 14;22. DESIGN: Case report. SETTING: Regional Reference Center for Male infertility in Siena, italy. PATIENT(S): A 36-year-old man with primary infertility for 3 years and his parents. INTERVENTION(S): family history and lymphocytic karyotypes, physical and hormonal assays, and semen analysis. MAIN OUTCOME MEASURE(S): Morphological sperm evaluation was performed by light, fluorescent, and electron microscopy; chromosomal constitution was examined by the fluorescence in situ hybridization (FISH) technique. The penetration ability of spermatozoa was checked by the hamster test. RESULT(S): The spermatozoa of the patient showed unusual ultrastructural defects. The nuclei were large, spheroidal, and generally uncondensed; the acrosomes were frequently absent or reduced; and the axonemes were often devoid of dynein arms or central singlet tubules. These characteristics are related to immaturity. The lymphocytic karyotype revealed a robertsonian translocation 14;22 in the sterile patient and his mother. FISH sperm analysis demonstrated a high frequency of diploidy for the chromosome 18,XY. The hamster penetration test gave negative results. CONCLUSION(S): The unusual structural sperm immaturity is associated with the translocation 14;22. This chromosomal anomaly may therefore negatively influence the spermatogenesis; an interchromosomal effect on meiosis segregation is also suggested.- - - - - - - - - - ranking = 1.0189890768251keywords = translocation, chromosomal translocation (Clic here for more details about this article) |
7/52. X-chromosome inactivation (XCI) patterns in placental tissues of a paternally derived bal t(X;20) case.Non-random X-chromosome inactivation (XCI) is often seen in female carriers of balanced X-autosome translocations and is generally attributed to a selective growth of cells that inactivate the normal X chromosome. However, little is known concerning when in development the selection acts, and thus whether skewed XCI would also be seen in placental tissues. Furthermore, as males with X-autosome translocations are normally infertile, all translocations studied to date for XCI-skewing have been either maternal or de novo in origin. We now present an analysis of XCI status in cord blood, umbilical cord and four different extraembryonic tissues from a female carrier of a paternally derived balanced (X;20) translocation. Using methylation based assays to determine XCI status, we found preferential inactivation of the non-translocated X in cord blood, umbilical cord and amnion samples of the propositus. Remarkably, random XCI was evident in several placental tissues analyzed (chorion, and chorionic villi trophoblast and mesenchyme). While these findings support the hypothesis of strong selection against cells with an inactive translocated X-chromosome in most embryonic/fetal tissues, they also suggest weaker selective forces taking place during placental development. Additionally, the finding of normal placental development in the present case, rules out the possibility of a parental bias to XCI in human extraembryonic tissues as a requisite for normal development. The finding of hypomethylation in extraembryonic tissues for two out of three markers used in the study is consistent with previous findings demonstrating low levels of methylation in these tissues.- - - - - - - - - - ranking = 0.57142857142857keywords = translocation (Clic here for more details about this article) |
8/52. Clinical and meiotic studies in an infertile man with Y;13 translocation.Clinical and meiotic studies were done on an infertile man with a translocation between Yq and 13q, who was identified through the birth of his son with partial trisomy 13q. Seminal plasma transferrin showed preserved Sertoli cell function while lactate dehydrogenase C4 indicated hypospermatogenesis. A quadrivalent in diakinesis and spermatogenic arrest in the second meiotic division was detected.- - - - - - - - - - ranking = 0.71428571428571keywords = translocation (Clic here for more details about this article) |
9/52. 10, 15 reciprocal translocation in an infertile man: ultrastructural and fluorescence in-situ hybridization sperm study: case report.BACKGROUND: Peculiar sperm defects are described in a sterile man heterozygous for a balanced translocation t(10;15) (q26;q12). As this structural reorganization was absent in the parents, the translocation must have appeared de novo in the present patient. methods: spermatozoa were analysed under light and transmission electron microscopy (TEM). fluorescence in-situ hybridization (FISH) was performed on the lymphocyte karyotype. aneuploidy frequencies of chromosomes 18, X and Y in sperm nuclei, not involved in the translocation, were investigated using three-colour FISH. Dual- colour FISH was used to evaluate segregation of chromosomes 10, 15 in decondensed sperm nuclei. Moreover, three-colour FISH, using telomeric probes for chromosomes 10, 15 was performed in order to distinguish balanced and unbalanced gametes. RESULTS AND CONCLUSIONS: overall, structural characteristics indicate general immaturity of the germinal cells. FISH sperm analysis detected an increase in chromosome 18 disomy (0.81%) suggesting an interchromosomal effect. A high frequency of diploidies, particularly 18,18,X,X and 18,18,X,Y, was also found. FISH segregation analysis for chromosomes 10, 15 indicated that 32.8% were balanced gametes, whereas 68.2% were unbalanced. Taken together, these data demonstrate in a male carrier of a reciprocal translocation t(10;15) the presence of diffuse ultrastructural sperm alterations and a high frequency of sperm aneuploidies. The existence of a correlation among these factors is proposed.- - - - - - - - - - ranking = 1.1428571428571keywords = translocation (Clic here for more details about this article) |
10/52. Two familial 9;17 translocations with variable effect on male carriers fertility.Two similar, but not identical, familial reciprocal translocations are described. In the first family, four sterile males inherited reciprocal translocation t(9;17)(q11'3) of maternal origin. In the second family, with the male fertility not impaired, reciprocal t(9;17)(q11;q11) was observed in four members of the family.- - - - - - - - - - ranking = 0.85714285714286keywords = translocation (Clic here for more details about this article) |
| | Next -> |