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t(15;21)(q15;q22.1) pat resulting in partial trisomy and partial monosomy of chromosomes 15 and 21 in two offspring.
[monosomy 21]
Two
sibs
,
carriers
of
unbalanced
products
of
the
translocation
t
(
15
;
21
)
(
q
15
;
q
22
.
1
)
pat
,
are
described
.
The
sister
had
Prader-
Willi
syndrome
due
to
deletion
15
(
pter
>
q
15
)
and
partial
trisomy
21
(
pter
>
q
22
.
1
)
;
her
brother
had
partial
trisomy
15
(
pter
>
q
15
)
and
partial
monosomy
21
(
pter
>
q
22
.
1
)
.
The
translocation
breakpoint
on
chromosome
21
was
located
proximal
to
the
SOD
1
gene
,
within
a
region
of
4
.
0
cM
(
2
.
3
Mb
)
between
the
loci
D
21
S
217
and
D
21
S
213
.
The
correlations
between
the
clinical
presentation
and
the
molecular
findings
of
the
two
sibs
are
discussed
in
relation
to
other
patients
with
partial
trisomy
and
monosomy
21
.
Diseases
Validation
Diseases presenting
"partial monosomy"
symptom
monosomy 21
wolf-hirschhorn syndrome
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