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A random Abstract
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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
"ichthyosis"
symptom
child syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
harlequin ichthyosis
hirschsprung disease
junctional epidermolysis bullosa
kallmann syndrome
lamellar ichthyosis
This symptom has already been validated
