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
.