Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Meiotic prophase I defects in an oligospermic man with Wolf-Hirschhorn syndrome with ring chromosome 4.
[wolf-hirschhorn syndrome]
Ring
chromosomes
are
often
associated
with
spermatogenetic
failure
.
However
,
the
mechanism
is
poorly
understood
.
We
here
reported
a
single
man
with
severe
oligospermia
and
a
ring
chromosome
4
with
a
microdeletion
at
4
p
16
.
3
.
Synapsis
(
as
SCP
3
)
,
recombination
(
as
MLH
1
)
and
transcriptional
inactivation
(
as
BRCA
1
)
in
a
testicular
biopsy
were
examined
by
fluorescence
immunostaining
.
In
the
oligospermia
patient
,
35
.
4
%
of
spermatocytes
were
in
zygotene
phase
compared
with
5
.
2
%
in
controls
.
The
patient
had
a
significantly
reduced
recombination
frequency
with
mean
of
45
.
9
MLH
1
foci
/
cell
compared
with
47
.
8
in
controls
.
In
the
patient
,
chromosome
4
in
all
pachytene
cells
displayed
loop
formation
with
varying
degrees
of
unpaired
regions
.
BRCA
1
localized
along
asynapsed
regions
regardless
of
XY
body
association
.
Ring
chromosome
4
might
affect
the
progression
of
meiosis
I
prophase
,
synapse
formation
,
and
transcriptional
activation
of
asynapsed
areas
,
and
impair
male
fertility
.
