Rare Diseases Symptoms Automatic Extraction
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Xp22.3 interstitial deletion: a recognizable chromosomal abnormality encompassing VCX3A and STS genes in a patient with X-linked ichthyosis and mental retardation.
[kallmann syndrome]
X-
linked
ichthyosis
is
a
genetic
disorder
affecting
the
skin
and
caused
by
a
deficit
in
the
steroid
sulfatase
enzyme
(
STS
)
,
often
associated
with
a
recurrent
microdeletion
at
Xp
22
.
31
.
Most
of
the
STS
deleted
patients
have
X-
linked
ichthyosis
as
the
only
clinical
feature
and
it
is
believed
that
patients
with
more
complex
disorders
including
mental
retardation
could
be
present
as
a
result
of
contiguous
gene
deletion
.
In
fact
,
VCX
3
A
gene
,
a
member
of
the
VCX
(
variable
charge
,
X
chromosome
)
gene
family
,
was
previously
proposed
as
the
candidate
gene
for
X-
linked
non-
specific
mental
retardation
in
patients
with
X-
linked
ichthyosis
.
We
report
on
a
boy
with
familial
ichthyosis
,
dysmorphic
features
and
moderate
mental
retardation
with
approximately
2
Mb
interstitial
deletion
on
Xp
22
.
3
involving
VCX
3
A
and
STS
genes
.
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