Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
[A case of mosaic ring chromosome 4 with subtelomeric 4p deletion].
[wolf-hirschhorn syndrome]
Ring
chromosome
is
a
structural
abnormality
that
is
thought
to
be
the
result
of
fusion
and
breakage
in
the
short
and
long
arms
of
chromosome
.
Wolf-
Hirschhorn
syndrome
(
WHS
)
is
a
well-known
congenital
anomaly
in
the
ring
chromosome
4
with
a
partial
deletion
of
the
distal
short
arm
.
Here
we
report
a
10
-
month
-old
male
of
mosaic
ring
chromosome
4
with
the
chief
complaint
of
severe
short
stature
.
He
showed
the
height
of
-
4
standard
deviation
,
subtle
hypothyroidism
and
mild
atrial
septal
defect
/
ventricular
septal
defect
,
and
also
a
mild
language
developmental
delay
was
suspected
.
Brain
magnetic
resonance
imaging
showed
multifocal
leukomalacia
.
Chromosomal
analysis
of
the
peripheral
blood
showed
the
mosaic
karyotype
with
[
46
,
XY
,
r
(
4
)
(
p
16
q
35
)
[
84
]
/
45
,
XY
,
-
4
[
9
]
/
91
,
XXYY
,
dic
r
(
4
;
4
)
(
p
16
q
35
;
p
16
q
35
)
[
5
]
/
46
,
XY
,
dic
r
(
4
;
4
)
(
p
16
q
35
;
p
16
q
35
)
[
2
]
]
.
FISH
study
showed
the
deletion
of
the
4
p
subtelomeric
region
with
the
intact
4
q
subtelomeric
and
WHS
region
.
Both
paternal
and
maternal
karyotypes
were
normal
.
We
compared
the
phenotypic
variation
with
the
previously
reported
cases
of
ring
chromosome
4
.
The
ring
chromosome
4
with
the
subtelomeric
deletion
of
short
arm
seems
to
be
related
with
the
phenotype
of
short
stature
.
Diseases
Validation
Diseases presenting
"long arms"
symptom
kabuki syndrome
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
wolf-hirschhorn syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom