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Prenatal diagnosis and molecular cytogenetics in a case of partial trisomy 14 and monosomy 21.
[monosomy 21]
We
report
an
unbalanced
translocation
involving
chromosomes
14
and
21
which
presented
as
fetal
ventriculomegaly
at
33
weeks
gestation
.
Second
trimester
ultrasound
had
indicated
normal
fetal
anatomy
,
including
normal
intracranial
structures
.
Parental
karyotypes
showed
a
paternal
balanced
translocation
:
46
,
XY
,
t
(
14
;
21
)
(
q
12
;
q
21
)
.
The
unbalanced
translocation
in
the
fetus
resulted
in
trisomy
for
14
pter--
>
q
12
and
monosomy
for
21
pter--
>
q
21
.
Postnatal
examination
showed
that
the
male
infant
had
a
cleft
palate
,
but
no
cleft
lip
,
and
mild
dysmorphic
features
.
Postnatal
MRI
revealed
bilateral
and
symmetric
dilatation
of
the
occipital
horns
,
atria
,
and
temporal
horns
of
the
lateral
ventricles
.
Molecular
cytogenetic
techniques
were
used
to
delineate
further
the
breakpoint
on
chromosome
14
to
a
site
distal
of
the
D
14
S
1071
locus
and
the
breakpoint
on
chromosome
21
to
a
region
between
D
21
S
1918
and
D
21
S
1902
.
More
precise
definitions
of
chromosomal
breakpoints
in
such
clinical
cases
should
provide
more
accurate
prognosis
for
individuals
with
unbalanced
karyotypes
and
assist
in
the
identification
of
putative
developmentally
important
genes
.
Diseases
Validation
Diseases presenting
"cleft palate"
symptom
22q11.2 deletion syndrome
aniridia
congenital diaphragmatic hernia
cystinuria
hirschsprung disease
kabuki syndrome
kallmann syndrome
monosomy 21
neuralgic amyotrophy
oligodontia
phenylketonuria
This symptom has already been validated