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
"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