Molecular Human Reproduction, Vol 3, 699-704, Copyright © 1997 by Oxford University Press
K van der Ven, M Montag, B Peschka, J Leygraaf, G Schwanitz, G Haidl, D Krebs and H van der Ven
We evaluated the frequency of chromosomal aberrations and microdeletions of
the Y chromosome in a sample of 204 patients included in an
intracytoplasmic sperm injection (ICSI) programme. The prevalence of Y
chromosome deletions in males with severely or only moderately reduced
sparm counts is mainly unknown, so that patients were chosen with sperm
counts ranging from mild oligozoospermia to azoospermia. While six out of
158 (3.8%) patients showed constitutional chromosomal aberrations, only two
out of 204 (0.98%) patients were diagnosed with a microdeletion of Yq11.
One had a terminal deletion in subinterval 6 of Yq11.23 which included the
DAZ gene and a corresponding sperm count < 0.1 x 10(6) spermatozoa/ml.
The second patient had an isolated deletion of marker Y6PH54c, a more
proximal site in subinterval 5 on Yq11.23, but repeatedly showed sperm
counts of 3-8 x 10(8) spermatozoa/ml. Thus, of the 158 patients who
underwent a combined cytogenetic and Y- microdeletion screening, eight
patients (5.1%) showed chromosomal abnormalities, either at the cytogenatic
(n = 6) or the molecular level (n = 2). In conclusion, although rare in
number, microdeletions of the Y chromosome can also be observed in patients
with moderately reduced sperm counts. A more proximal site of the deletion
breakpoint does not necessarily imply a more severe impairment of
spermatogenesis than a distal deletion site. In our sample, the overall
frequency of constitutional chromosomal aberrations exceeded the incidence
of microdeletions of the Y chromosome even in patients with idiopathic
azoo- or severe oligozoospermia.
JOURNAL ARTICLE
Combined cytogenetic and Y chromosome microdeletion screening in males undergoing intracytoplasmic sperm injection
Department of Obstetrics and Gynecology, University of Bonn, Germany.
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