Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Maternal origin of monosomy 21 derived from ICSI.
[monosomy 21]
With
the
worldwide
diffusion
of
the
intracytoplasmic
sperm
injection
(
ICSI
)
procedure
in
recent
years
,
the
issue
of
possible
genetic
risks
of
this
new
and
powerful
technique
has
attracted
considerable
attention
.
An
important
concern
is
whether
ICSI
facilitated
the
passage
of
genetic
defects
from
spermatozoa
to
offspring
.
ICSI
was
performed
with
spermatozoa
from
a
frozen-thawed
sperm
sample
from
a
testicular
sperm
extraction
(
TESE
)
of
a
38
year
old
man
who
suffered
from
azoospermia
.
His
wife
was
36
years
old
.
The
resulting
pregnancy
spontaneously
aborted
at
8
weeks
gestation
after
embryo
replacement
.
Cytogenetic
investigation
displayed
monosomy
21
.
The
paternal
origin
of
the
single
chromosome
21
was
determined
by
molecular
analysis
.
The
segregation
error
leading
to
loss
of
one
chromosome
21
is
likely
to
have
occurred
during
oogenesis
rather
than
as
a
direct
consequence
of
ICSI
.
Nonetheless
,
monosomy
21
is
extremely
rare
and
it
can
not
be
excluded
that
ICSI
assisted
the
fertilization
of
an
abnormal
oocyte
.
