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De novo satellited 21q associated with corpus callosum dysgenesis, colpocephaly, a concealed penis, congenital heart defects, and developmental delay.
[monosomy 21]
De
novo
satellited
21
q
associated
with
corpus
callosum
dysgenesis
,
colpocephaly
,
a
concealed
penis
,
congenital
heart
defects
,
and
developmental
delay
:
We
present
clinical
and
cytogenetic
data
on
an
infant
with
de
novo
satellited
21
q
.
A
3
-
month
-old
boy
was
found
to
have
microcephaly
,
developmental
delay
,
hypertelorism
,
down-slanting
palpebral
fissures
,
large
low-set
ears
,
a
prominent
nose
,
a
broad
philtrum
,
a
concealed
penis
,
interventricular
septal
defects
,
corpus
callosum
dysgenesis
,
colpocephaly
,
ventriculomegaly
,
and
a
de
novo
karyotype
of
46
,
XY
,
21
qs
.
Standard
Ag
-
NOR
staining
and
FISH
studies
confirmed
a
satellite
and
a
deletion
on
the
long
arm
of
a
chromosome
21
.
Quantitative-fluorescent
polymerase
chain
reaction
using
the
polymorphic
small
tandem
repeat
markers
specific
for
chromosome
21
determined
a
maternal
origin
of
the
deletion
and
the
breakpoint
between
D
21
S
156
(
21
q
22
.
1
)
(
present
)
and
D
21
S
53
(
21
q
22
.
3
)
(
absent
)
,
centromeric
to
the
known
minimal
holoprosencephaly
critical
region
,
D
21
S
13
-
21
qter
.
The
present
case
provides
evidence
of
the
correlation
of
a
distal
region
of
chromosome
21
to
the
phenotypic
effects
of
monosomy
21
.
Diseases
Validation
Diseases presenting
"microcephaly"
symptom
22q11.2 deletion syndrome
alpha-thalassemia
coats disease
cohen syndrome
congenital toxoplasmosis
dentin dysplasia
hirschsprung disease
homocystinuria without methylmalonic aciduria
kabuki syndrome
monosomy 21
phenylketonuria
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
wolf-hirschhorn syndrome
This symptom has already been validated