Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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De novo deletion of chromosome 18q in a baby with harlequin ichthyosis.
[harlequin ichthyosis]
Harlequin
ichthyosis
,
(
MIM
242500
)
,
is
a
rare
,
autosomal
recessive
skin
disorder
due
to
an
inborn
error
of
epidermal
keratinization
.
The
gene
for
this
condition
has
not
been
localized
.
We
present
a
case
of
HI
in
which
there
was
a
de
novo
deletion
of
chromosome
18
q
:
the
karyotype
was
46
,
XY
,
del
(
18
)
(
q
21
.
3
)
.
We
postulate
that
the
gene
for
HI
may
lie
at
,
or
distal
to
18
q
21
.
3
and
that
the
deletion
observed
in
this
case
may
have
unmasked
this
autosomal
recessive
disorder
.
Diseases
Validation
Diseases presenting
"skin disorder"
symptom
aniridia
congenital adrenal hyperplasia
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
harlequin ichthyosis
junctional epidermolysis bullosa
kindler syndrome
lamellar ichthyosis
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