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Full monosomy 21: echocardiographic findings in the third molecularly confirmed case.
[monosomy 21]
Monosomy
21
is
a
rare
chromosomal
abnormality
,
with
only
nine
cases
reported
in
the
literature
.
Affected
infants
display
multiple
dysmorphic
features
as
well
as
skeletal
,
ocular
,
pulmonary
,
cardiac
,
renal
,
and
genitourinary
abnormalities
.
All
monosomies
are
lethal
except
monosomy
21
,
but
not
all
monosomy
21
fetuses
survive
to
term
.
This
report
describes
the
echocardiographic
findings
and
the
congenital
heart
defects
associated
with
the
third
case
of
molecularly
confirmed
full
monosomy
21
in
the
literature
.
The
cardiac
defects
included
a
mildly
hypoplastic
and
hypertrophied
left
ventricle
,
a
large
ostium
secundum
atrial
septal
defect
,
a
small
anterior
muscular
ventricular
septal
defect
,
an
interrupted
inferior
vena
cava
with
azygos
continuation
,
a
parachute
mitral
valve
,
a
bicuspid
aortic
valve
,
and
a
tortuous
descending
aorta
.
It
also
is
the
first
description
of
a
left
pulmonary
artery
aneurysm
and
decreased
left
ventricular
function
as
a
component
in
the
spectrum
of
defects
found
in
full
monosomy
21
.
Diseases
Validation
Diseases presenting
"first description"
symptom
cystinuria
dedifferentiated liposarcoma
erythropoietic protoporphyria
kabuki syndrome
monosomy 21
oral submucous fibrosis
phenylketonuria
systemic capillary leak syndrome
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