Verfasst: 05 Jun 2003 21:39
Scheint ein sehr komplexes Thema zu sein.
Habe mehrer wissenschaftliche Arbeiten gefunden, die aber entweder beleuchten, warum die Veränderung zur männlichen Zeugungseinschränkung führt oder bei der Frau zu gehäuften Fehlgeburten.
Hum Reprod. 2000 May;15(5):1136-9.
Chromosome analysis of human spermatozoa from an oligoasthenozoospermic carrier for a 13;14 Robertsonian translocation by their injection into mouse oocytes.
Ogawa S, Araki S, Araki Y, OhnOgawa o M, Sato I.
Department of Obstetrics and Gynecology, Jichi Medical School, Minamikawachimachi, Tochigi, 329-0498, Japan.
We present a case of a 46,XY der(13;14) Robertsonian translocation carrier whose spermatozoa were karyotyped after injection into mouse oocytes. Fresh semen samples as well as recovered samples were used. There was no significant difference in the survival rate of mouse oocytes (fresh: 78.1% versus frozen: 81.7%), activation rate (fresh: 84.0% versus frozen: 90.6%), fertilization rate (fresh: 72.0% versus thawing of frozen: 76.5%) between fresh or frozen spermatozoa. Metaphase chromosome spreads from 45 spermatozoa were analysed. The frequency of spermatozoa that were chromosomally unbalanced with respect to the translocation was 8.9%, and the frequency of abnormalities unrelated to translocation was 4.4%. An excess of spermatozoa with balanced chromosomes was observed: compared with normal, 23 (51.1%) versus 16 (35.6%) respectively; but this segregation difference was not statistically significant (chi(2) = 0.9, P > 0.3). After genetic counselling with the carrier and his partner, intracytoplasmic sperm injection treatment was performed. Healthy female and male infants were delivered at 36 weeks gestation via a Caesarean section. Both babies were carriers for the balanced Robertsonian translocations detected for prenatal diagnosis at 16 weeks gestation. The present study demonstrates that patients can be given further information about the proportion of the spermatozoa which carry a chromosomal abnormality.
Hier scheint es kein erhöhts Risiko für genetische Fehlbildungen bei den Kindern zu geben.
Über die Einnistungsfrequenz ist hier nichts zu finden.
Andrologia. 1988 Nov-Dec;20(6):463-6. Related Articles, Links
Robertsonian heterozygosity and male sterility.
Gabriel-Robez O, Ratomponirina C, Cranz C, Weill A, Goldschmit PA, Bollack C, Rumpler Y.
Faculte de Medicine, Institute d'Embryology, Strasbourg/France.
Meiotic and synaptonemal complex studies using electron microscopy were carried out on infertile man with a 13/14 translocation. Synaptonemal complex analysis showed a typical trivalent with incomplete pairing of the acrocentric elements. The sterilizing effect caused by the failure of synapsis is discussed. This pairing failure has a diagnostic value and a poor prognosis
Hum Genet. 1980;55(1):137-9. Related Articles, Links
13/14 Translocation in a man with reproductive failure. Mitotic and meiotic studies.
Micic MD, Nikolis JG, Micic SR.
An inherited (maternal origin) 13/14 translocation with the nucleolus organizer regions eliminated and one centromere was found in an oligospermic man whose wife had had two spontaneous abortions. Meiotic studies revealed all stages of spermatogenesis with a trivalent configuration in diakinesis. Possible reasons for his subfertility and his mother's normal fertility are discussed.
Also, eine gute Antwort ist wirklich schwer.
Am besten doch auf die Genetikerin warten.
Habe mehrer wissenschaftliche Arbeiten gefunden, die aber entweder beleuchten, warum die Veränderung zur männlichen Zeugungseinschränkung führt oder bei der Frau zu gehäuften Fehlgeburten.
Hum Reprod. 2000 May;15(5):1136-9.
Chromosome analysis of human spermatozoa from an oligoasthenozoospermic carrier for a 13;14 Robertsonian translocation by their injection into mouse oocytes.
Ogawa S, Araki S, Araki Y, OhnOgawa o M, Sato I.
Department of Obstetrics and Gynecology, Jichi Medical School, Minamikawachimachi, Tochigi, 329-0498, Japan.
We present a case of a 46,XY der(13;14) Robertsonian translocation carrier whose spermatozoa were karyotyped after injection into mouse oocytes. Fresh semen samples as well as recovered samples were used. There was no significant difference in the survival rate of mouse oocytes (fresh: 78.1% versus frozen: 81.7%), activation rate (fresh: 84.0% versus frozen: 90.6%), fertilization rate (fresh: 72.0% versus thawing of frozen: 76.5%) between fresh or frozen spermatozoa. Metaphase chromosome spreads from 45 spermatozoa were analysed. The frequency of spermatozoa that were chromosomally unbalanced with respect to the translocation was 8.9%, and the frequency of abnormalities unrelated to translocation was 4.4%. An excess of spermatozoa with balanced chromosomes was observed: compared with normal, 23 (51.1%) versus 16 (35.6%) respectively; but this segregation difference was not statistically significant (chi(2) = 0.9, P > 0.3). After genetic counselling with the carrier and his partner, intracytoplasmic sperm injection treatment was performed. Healthy female and male infants were delivered at 36 weeks gestation via a Caesarean section. Both babies were carriers for the balanced Robertsonian translocations detected for prenatal diagnosis at 16 weeks gestation. The present study demonstrates that patients can be given further information about the proportion of the spermatozoa which carry a chromosomal abnormality.
Hier scheint es kein erhöhts Risiko für genetische Fehlbildungen bei den Kindern zu geben.
Über die Einnistungsfrequenz ist hier nichts zu finden.
Andrologia. 1988 Nov-Dec;20(6):463-6. Related Articles, Links
Robertsonian heterozygosity and male sterility.
Gabriel-Robez O, Ratomponirina C, Cranz C, Weill A, Goldschmit PA, Bollack C, Rumpler Y.
Faculte de Medicine, Institute d'Embryology, Strasbourg/France.
Meiotic and synaptonemal complex studies using electron microscopy were carried out on infertile man with a 13/14 translocation. Synaptonemal complex analysis showed a typical trivalent with incomplete pairing of the acrocentric elements. The sterilizing effect caused by the failure of synapsis is discussed. This pairing failure has a diagnostic value and a poor prognosis
Hum Genet. 1980;55(1):137-9. Related Articles, Links
13/14 Translocation in a man with reproductive failure. Mitotic and meiotic studies.
Micic MD, Nikolis JG, Micic SR.
An inherited (maternal origin) 13/14 translocation with the nucleolus organizer regions eliminated and one centromere was found in an oligospermic man whose wife had had two spontaneous abortions. Meiotic studies revealed all stages of spermatogenesis with a trivalent configuration in diakinesis. Possible reasons for his subfertility and his mother's normal fertility are discussed.
Also, eine gute Antwort ist wirklich schwer.
Am besten doch auf die Genetikerin warten.
