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A large family with subtelomeric translocation t(18;21)(q23;q22.1) and molecular breakpoint in the Down syndrome critical region.
[monosomy 21]
We
describe
a
17
-
month
-old
infant
with
clinical
features
of
Down
syndrome
and
a
normal
karyotype
by
standard
chromosomal
analysis
,
her
two
uncles
aged
28
and
30
years
,
respectively
,
with
reduced
intelligence
and
unusual
appearance
but
not
apparent
Down
syndrome
,
and
a
severely
retarded
6
-
year
-old
girl
with
dysmorphy
and
epilepsy
from
the
same
family
.
Cytogenetic
studies
of
patients
and
normal
intervening
relatives
had
been
carried
out
at
different
institutions
with
normal
results
.
Fluorescence
in
situ
hybridization
using
whole
chromosome
painting
and
unique-copy
probes
(
cosmids
)
and
high
-resolution
banding
revealed
a
familial
subtelomeric
translocation
of
chromosomes
18
and
21
,
resulting
in
partial
trisomy
21
in
the
infant
and
her
two
uncles
,
and
partial
monosomy
21
in
the
6
-
year
-old
girl
.
Cytogenetic
breakpoints
were
located
in
bands
18
q
23
and
21
q
22
.
1
,
respectively
.
The
molecular
breakpoint
on
chromosome
21
was
located
between
D
21
S
211
(
proximal
)
and
D
21
S
1283
(
distal
)
and
thus
maps
within
the
Down
syndrome
critical
region
.
Diseases
Validation
Diseases presenting
"partial monosomy"
symptom
monosomy 21
wolf-hirschhorn syndrome
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