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A random Abstract
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Presumptive monosomy 21 with neuronal migration disorder re-diagnosed as de novo unbalanced translocation t(18p;21q) by fluorescence in situ hybridisation.
[monosomy 21]
We
present
clinical
and
cytogenetic
data
of
a
one
year
old
boy
with
partial
monosomy
for
both
21
q
and
18
p
,
resulting
from
a
de
novo
unbalanced
translocation
.
The
initial
diagnosis
of
a
seemingly
full
monosomy
21
was
revised
after
fluorescence
in
situ
hybridisation
(
FISH
)
with
whole
chromosome
painting
probes
and
a
locus-
specific
chromosome
21
probe
.
The
karyotype
was
reinterpreted
as
45
,
XY
,
der
(
18
)
t
(
18
;
21
)
(
p
11
.
2
;
q
22
.
1
)
,
-
21
.
This
karyotype
,
to
our
knowledge
,
has
not
been
previously
described
.
The
boy
presented
with
a
spectrum
of
clinical
features
previously
described
for
(
partial
)
monosomy
18
p
only
,
for
monosomy
21
q
only
,
or
for
both
of
these
aneusomies
.
The
radiological
finding
of
a
neuronal
migration
disorder
with
localised
polymicrogyria
(
cortical
dysplasia
)
has
not
been
described
for
either
monosomy
before
.
Diseases
Validation
Diseases presenting
"polymicrogyria"
symptom
alexander disease
canavan disease
cohen syndrome
kabuki syndrome
krabbe disease
monosomy 21
neonatal adrenoleukodystrophy
pyruvate dehydrogenase deficiency
zellweger syndrome
This symptom has already been validated
