title: Two cases of Robertsonian translocations in oligozoospermic males and their consequences for pregnancies induced by intracytoplasmic sperm injection.
abstract: Two case histories are presented documenting structural chromosome abnormalities in infertile males. The abnormalities were detected only after application of intracytoplasmic sperm injection (ICSI) was repeatedly unsuccessful or resulted in an abnormal pregnancy. A mosaic Robertsonian translocation 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 with extreme oligozoospermia after three subsequent ICSI treatments were unsuccessful and one had resulted in a spontaneous abortion. A second case involved a Robertsonian translocation 45,XY,der(13;14)(q10;q10) which was detected in a male with extreme oligozoospermia after ultrasound abnormalities were found in an ICSI-induced twin pregnancy. Amniocentesis showed an unbalanced 46,XY,+13,der(13;14)(q10;q10) karyotype in one twin and a Robertsonian 45,XX,der(13;14)(q10;q10) karyotype in the other twin. Chromosome analysis of males with abnormal sperm characteristics is advised prior to ICSI.
authors.affiliation: Department of Clinical Genetics, Erasmus University and University Hospital, Rotterdam, The Netherlands.
authors.forename: P A
authors.initials: PA
authors.lastname: Veld
authors.forename: R F
authors.initials: RF
authors.lastname: Weber
authors.forename: F J
authors.initials: FJ
authors.lastname: Los
authors.forename: N
authors.initials: N
authors.lastname: den Hollander
authors.forename: M
authors.initials: M
authors.lastname: Dhont
authors.forename: M H
authors.initials: MH
authors.lastname: Pieters
authors.forename: J O
authors.initials: JO
authors.lastname: Van Hemel
mesh_terms: D000328:Adult; D003593:Cytoplasm; D005260:Female; D006801:Humans; D007317:Insemination, Artificial, Homologous / Q000379:methods*; D008297:Male; D008845:Microinjections; D009845:Oligospermia / Q000235:genetics*; D011247:Pregnancy; D011248:Pregnancy Complications / Q000209:etiology*; D013094:Spermatozoa; D014178:Translocation, Genetic