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Isochromosome X mosaicism in a child with Kabuki syndrome phenotype: A rare cytogenetic association.
[kabuki syndrome]
Isochromosome
is
a
structurally
unbalanced
chromosome
consisting
of
two
short
arms
or
two
long
arms
,
which
are
derived
by
abnormal
centromere
division
or
sister-chromatid
exchange
.
Most
autosomal
isochromosomes
are
unusual
,
while
those
involving
sex
chromosomes
are
common
.
Kabuki
syndrome
(
KS
,
OMIM
147920
)
is
a
multiple
malformation
/
mental
retardation
syndrome
of
unknown
etiology
.
A
conventional
cytogenetic
study
on
lymphocytes
from
a
4
-
year
-old
girl
with
physical
features
suggestive
of
KS
was
found
to
have
mosaicism
for
isochromosome
for
the
long
arm
of
the
X
.
Although
most
manifestations
present
in
this
patient
have
been
described
before
,
this
report
is
a
rare
association
of
clinical
and
cytogenetic
findings
in
this
syndrome
.
A
genome-
wide
analysis
and
a
larger
number
of
patient
groups
studied
could
improve
our
understanding
of
the
genetic
basis
of
KS
.
Diseases
Validation
Diseases presenting
"mental retardation"
symptom
achondroplasia
alexander disease
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
cystinuria
dentin dysplasia
familial hypocalciuric hypercalcemia
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
lamellar ichthyosis
lymphangioleiomyomatosis
monosomy 21
phenylketonuria
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated