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Two cases of Robertsonian translocations in oligozoospermic males and their consequences for pregnancies induced by intracytoplasmic sperm injection
Authors:Veld, PA   Weber, RF   Los, FJ   den Hollander, N   Dhont, M   Pieters, MH   Van Hemel, JO
Affiliation:Department of Clinical Genetics, Erasmus University and University Hospital, Rotterdam, The Netherlands.
Abstract:Two case histories are presented documenting structural chromosomeabnormalities in infertile males. The abnormalities were detected onlyafter application of intracytoplasmic sperm injection (ICSI) was repeatedlyunsuccessful or resulted in an abnormal pregnancy. A mosaic Robertsoniantranslocation 45,XY,der(13;13)(q10; q10)/46,XY,t(13;13)(p10;p10),der(13p;13p) incompatible with normal offspring was found in a male withextreme oligozoospermia after three subsequent ICSI treatments wereunsuccessful and one had resulted in a spontaneous abortion. A second caseinvolved a Robertsonian translocation 45,XY,der(13;14)(q10;q10) which wasdetected in a male with extreme oligozoospermia after ultrasoundabnormalities were found in an ICSI-induced twin pregnancy. Amniocentesisshowed an unbalanced 46,XY,+13,der(13;14)(q10;q10) karyotype in one twinand a Robertsonian 45,XX,der(13;14)(q10;q10) karyotype in the other twin.Chromosome analysis of males with abnormal sperm characteristics is advisedprior to ICSI.
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