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Fetal t(5p;21q) misdiagnosed as monosomy 21: a plea for in situ hybridization studies.
[monosomy 21]
We
report
a
case
of
45
,
XY
,
-
5
,
-
21
,
+
der
(
5
)
t
(
5
;
21
)
(
p
13
or
p
14
;
q
11
.
2
or
q
21
)
that
was
prenatally
misdiagnosed
as
complete
monosomy
21
and
terminated
at
24
weeks
of
gestation
.
Subsequent
fluorescence
in
situ
hybridization
studies
with
a
chromosome
21
painting
probe
documented
the
cryptic
unbalanced
translocation
.