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[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
"hypothyroidism"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
adrenomyeloneuropathy
alpha-thalassemia
aromatase deficiency
congenital adrenal hyperplasia
cowden syndrome
cushing syndrome
familial mediterranean fever
gm1 gangliosidosis
harlequin ichthyosis
hirschsprung disease
inclusion body myositis
kallmann syndrome
pendred syndrome
proteus syndrome
pyruvate dehydrogenase deficiency
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated