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De novo unbalanced t(11q;21q) leading to a partial monosomy 21pter-q22.2 and 11q24-qter in a patient initially diagnosed as monosomy 21.
[monosomy 21]
We
describe
a
patient
in
whom
full
monosomy
21
was
initially
assumed
from
routine
GTG
banded
karyotyping
.
Re-examination
with
chromosome
painting
demonstrated
an
unbalanced
translocation
between
the
long
arms
of
chromosomes
11
and
21
.
Fluorescence
in
situ
hybridization
(
FISH
)
and
microsatellite
marker
analysis
revealed
partial
monosomy
of
chromosome
21
(
pter-q
22
.
2
)
and
11
(
q
24
-
qter
)
.
The
patient
was
prematurely
born
in
the
31
st
week
of
gestation
and
expired
3
days
after
delivery
.
She
showed
multiple
minor
anomalies
,
a
complex
cardio-
vascular
malformation
,
intestinal
malrotation
and
cerebellar
hypoplasia
.
