Sperm analyses, genetic counselling and therapy in an infertile carrier of a supernumerary marker chromosome 15.

Purpose: A supernumerary marker chromosome (SMC) was analysed after lymphocyte culture of a patient with oligoasthenoteratozoospermia (OAT) before ICSI treatment.

Material And Methods: By additional molecular cytogenetic investigations the marker could be identified as a heterochromatic derivate of chromosome 15 [karyotype: 47,XY,+der(15)].

Results: Sperm analyses by interphase FISH showed a normal monosomy 15 in 82% and an additional marker in 17% of the cells. In spite of these findings a pregnancy could not be induced. The brother of the patient showed the same chromosome abnormality and an OAT-syndrome as well.

Conclusions: ICSI-treatment lead to a normal pregnancy and to the birth of a healthy boy. The genetic risk factors of both marker carriers are analysed in detail.