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A random Abstract
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Holoprosencephaly in an infant with a minute deletion of chromosome 21(q22.3).
[monosomy 21]
We
evaluated
an
infant
because
holoprosencephaly
had
been
detected
by
prenatal
ultrasound
examination
and
magnetic
resonance
imaging
(
MRI
)
.
Postnatally
,
high
-resolution
cytogenetic
studies
showed
a
minute
deletion
of
chromosome
21
(
q
22
.
3
)
.
This
patient
lacks
many
of
the
characteristics
associated
with
monosomy
21
,
partial
monosomy
21
,
and
ring
21
chromosome
patients
.
She
also
lacks
the
midline
facial
abnormalities
often
seen
with
holoprosencephaly
.
The
similarity
in
facial
appearance
between
this
case
and
one
previously
reported
patient
with
holoprosencephaly
and
a
ring
chromosome
21
suggests
a
causal
relationship
between
holoprosencephaly
and
deletion
of
chromosome
21
(
q
22
.
3
)
.
These
findings
also
suggest
that
infants
and
children
with
developmental
delay
and
apparently
normal
facial
appearance
should
be
examined
for
holoprosencephaly
and
that
all
identified
patients
with
holoprosencephaly
need
high
-resolution
cytogenetic
studies
with
careful
attention
to
the
terminal
portion
of
21
q
.