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Ring chromosome 21 and monosomy 21 mosaicism in a patient with azoospermia.
[monosomy 21]
In
this
report
,
we
describe
a
patient
with
azoospermia
in
conjection
with
de
novo
ring
chromosome
21
and
monosomy
21
mosaicism
.
Inter-phase
fluorescence
in
situ
hybridisation
(
FISH
)
studies
on
uncultured
peripheral
blood
and
epithelial
cells
obtained
by
buccal
smear
revealed
that
25
%
of
the
uncultured
blood
cells
and
11
%
of
the
epithelial
cells
were
monosomic
for
chromosome
21
.
Y
chromosome
microdeletion
analysis
ruled
out
the
presence
of
any
genomic
deletions
in
the
azoospermic
factor
a
,
b
,
c
regions
on
the
long
arm
of
chromosome
Y
.
Additionally
,
through
subtelomeric
FISH
analysis
,
it
was
found
that
there
was
no
deletion
in
the
subtelomeric
region
of
ring
chromosome
21
.
Our
results
indicate
that
ring
chromosome
21
is
a
rare
,
but
recurrent
chromosomal
abnormality
in
male
factor
infertility
.
Furthermore
,
in
individuals
with
ring
chromosome
21
,
defective
spermatogenesis
is
not
associated
with
the
deletion
of
any
gene
or
genes
located
in
the
subtelomeric
region
of
chromosome
21
.
