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A case of 9.7 Mb terminal Xp deletion including OA1 locus associated with contiguous gene syndrome.
[kallmann syndrome]
Terminal
or
interstitial
deletions
of
Xp
(
Xp
22
.
2
→
Xpter
)
in
males
have
been
recognized
as
a
cause
of
contiguous
gene
syndromes
showing
variable
association
of
apparently
unrelated
clinical
manifestations
such
as
Leri-
Weill
dyschondrosteosis
(
SHOX
)
,
chondrodysplasia
punctata
(
CDPX
1
)
,
mental
retardation
(
NLGN
4
)
,
ichthyosis
(
STS
)
,
Kallmann
syndrome
(
KAL
1
)
,
and
ocular
albinism
(
GPR
143
)
.
Here
we
present
a
case
of
a
13
.
5
yr
old
boy
and
sister
with
a
same
terminal
deletion
of
Xp
22
.
2
resulting
in
the
absence
of
genes
from
the
telomere
of
Xp
to
GPR
143
of
Xp
22
.
The
boy
manifested
the
findings
of
all
of
the
disorders
mentioned
above
.
We
began
a
testosterone
enanthate
monthly
replacement
therapy
.
His
sister
,
11
yr
old
,
manifested
only
Leri-
Weill
dyschondrosteosis
,
and
had
engaged
in
growth
hormone
therapy
for
3
yr
.
To
the
best
of
our
knowledge
,
this
is
the
first
report
of
a
male
with
a
9
.
7
Mb
terminal
Xp
deletion
including
the
OA
1
locus
in
Korea
.
Diseases
Validation
Diseases presenting
"apparently unrelated clinical manifestations"
symptom
kallmann syndrome
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