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Mosaic ring chromosome 21, monosomy 21, and isodicentric ring chromosome 21: prenatal diagnosis, molecular cytogenetic characterization, and association with 2-Mb deletion of 21q21.1-q21.2 and 5-Mb deletion of 21q22.3.
[monosomy 21]
To
present
the
perinatal
findings
and
molecular
cytogenetic
characterization
of
prenatally
detected
mosaic
r
(
21
)
.
A
29
-
year
-old
primigravid
woman
underwent
amniocentesis
at
22
weeks
'
gestation
because
of
hyperechogenic
cardiac
foci
and
intrauterine
growth
restriction
.
Amniocentesis
revealed
a
karyotype
of
46
,
XY
,
r
(
21
)
[
15
]
/
45
,
XY
,
-
21
[
5
]
.
The
parental
karyotypes
were
normal
.
The
woman
requested
repeat
amniocentesis
.
Oligonucleotide-based
array
comparative
genomic
hybridization
was
applied
to
the
uncultured
amniocytes
,
rapidly
detecting
a
2
.
09
-
Mb
deletion
of
21
q
21
.
1
-
q
21
.
2
(
21
,
495
,
262
-
23
,
580
,
815
bp
)
and
a
5
.
03
-
Mb
deletion
of
21
q
22
.
3
-
q
22
.
3
(
41
,
887
,
412
-
46
,
914
,
715
bp
)
.
Cytogenetic
analysis
revealed
a
karyotype
of
46
,
XY
,
r
(
21
)
[
8
]
/
45
,
XY
,
-
21
[
3
]
/
46
,
XY
,
idic
r
(
21
)
[
1
]
.
The
pregnancy
was
terminated
,
and
a
malformed
fetus
was
delivered
with
clinodactyly
,
short
big
toes
,
separation
between
the
first
and
second
toes
,
prominent
nasal
bridge
,
downward
slanting
palpebral
fissures
,
protuberant
occiput
,
prominent
forehead
,
broad
anteverted
nasal
tip
,
long
philtrum
,
thin
upper
lip
,
small
mouth
,
and
micrognathia
.
The
placenta
had
a
karyotype
of
46
,
XY
,
r
(
21
)
[
83
]
/
45
,
XY
,
-
21
[
11
]
/
46
,
XY
,
idic
r
(
21
)
[
6
]
,
and
the
cord
blood
lymphocytes
had
a
karyotype
of
46
,
XY
,
r
(
21
)
[
88
]
/
45
,
XY
,
-
21
[
9
]
/
46
,
XY
,
idic
r
(
21
)
[
3
]
.
Polymorphic
DNA
marker
analysis
determined
a
maternal
origin
for
the
deletion
.
An
extra
interstitial
21
q
deletion
can
be
associated
with
mosaic
r
(
21
)
in
addition
to
a
terminal
21
q
deletion
.
aCGH
is
useful
in
determining
the
breakpoints
and
associated
subtle
structural
abnormalities
in
cases
of
prenatally
detected
ring
chromosome
in
order
to
facilitate
genetic
counseling
.
Diseases
Validation
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"blood lymphocytes"
symptom
cholangiocarcinoma
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kallmann syndrome
monosomy 21
omenn syndrome
pyruvate dehydrogenase deficiency
scrub typhus
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