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Monosomy for 21pter-q21: case report and assignment of a DNA clone (Fr8-77) to the deleted segment.
[monosomy 21]
A
4
-
month
-old
Japanese
girl
with
partial
monosomy
21
was
described
.
The
patient
has
craniofacial
anomalies
,
a
short
neck
,
wide
-set
nipples
,
anal
atresia
,
deformed
feet
,
hypertonia
,
intrauterine
growth
retardation
,
and
mental
deficiency
.
RFA-
and
high
-resolution
GTG-banding
chromosome
analyses
,
and
Southern
-
and
slot-blot
analyses
interpreted
her
karyotype
as
45
,
XX
,
-
2
,
-
21
,
+
der
(
2
)
t
(
2
:
21
)
(
q
37
.
3
;
q
22
.
1
)
.
The
origin
of
this
de
novo
translocation
ascertained
by
analyses
with
both
QFQ-heteromorphisms
and
a
Fr
8
-
77
/
BamHI
RFLP
was
paternal
.
Comparison
of
the
patient
with
previously
reported
patients
confirmed
that
her
manifestations
are
consistent
with
those
of
monosomy
for
21
pter-q
21
.
Based
on
the
results
of
molecular
analyses
on
the
present
patient
,
a
DNA
clone
,
Fr
8
-
77
(
D
21
S
82
)
,
was
assigned
to
pter-q
21
.
Diseases
Validation
Diseases presenting
"previously reported patients"
symptom
dentin dysplasia
familial mediterranean fever
krabbe disease
monosomy 21
neonatal adrenoleukodystrophy
triple a syndrome
von hippel-lindau disease
wolf-hirschhorn syndrome
zellweger syndrome
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