Sperm analyses, genetic counselling and therapy in an infertile carrier of a supernumerary marker chromosome 15.
OBJECTIVE
A supernumerary marker chromosome (SMC) was analysed after lymphocyte culture of a patient with oligoasthenoteratozoospermia (OAT) before ICSI treatment.


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.
Paetzold
U
U
Institute of Human Genetics, University of Bonn, Germany.
Schwanitz
G
G
Schubert
R
R
van der Ven
K
K
Montag
M
M
D000328:Adult; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D005260:Female; D005817:Genetic Counseling / Q000379:methods*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male / Q000235:genetics / Q000523:psychology / Q000628:therapy*; D007621:Karyotyping; D008297:Male; D013094:Spermatozoa / Q000378:metabolism / Q000473:pathology