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Full monosomy 21, prenatally diagnosed by fluorescent in situ hybridization.
[monosomy 21]
We
describe
a
case
of
full
monosomy
21
which
was
prenatally
diagnosed
in
chorionic
villi
by
fluorescent
in
situ
hybridization
(
FISH
)
.
Because
of
intrauterine
fetal
death
,
a
curettage
was
performed
and
cytogenetic
analysis
of
skin
fibroblasts
confirmed
the
presence
of
monosomy
21
in
fetal
cells
.
DNA
investigations
showed
a
paternal
origin
of
the
single
chromosome
21
.
Inspection
and
autopsy
of
the
fetus
revealed
several
congenital
malformations
.
Some
of
them
have
been
reported
in
earlier
studies
of
monosomy
21
;
others
concern
new
observations
.
Regarding
the
eye
,
the
following
abnormalities
were
microscopically
observed
:
absence
of
the
anterior
and
posterior
eye
chambers
,
aniridy
,
a
hypoplastic
ciliary
body
,
Peter
's
anomaly
,
and
a
double
retina
with
secondary
dysplasia
.
In
addition
,
malformations
of
the
extremities
were
seen
:
partial
,
proximal
syndactyly
of
digits
3
and
4
of
the
right
hand
;
pes
varus
position
of
the
right
foot
;
and
transverse
reduction
defect
at
the
tarsals
of
the
left
foot
.
To
our
knowledge
,
this
is
the
first
case
in
which
full
monosomy
21
has
been
proven
.
Diseases
Validation
Diseases presenting
"first case"
symptom
achondroplasia
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
carcinoma of the gallbladder
child syndrome
cholangiocarcinoma
classical phenylketonuria
coats disease
cohen syndrome
congenital toxoplasmosis
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentin dysplasia
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
esophageal adenocarcinoma
esophageal carcinoma
fabry disease
familial mediterranean fever
focal myositis
gm1 gangliosidosis
harlequin ichthyosis
hodgkin lymphoma, classical
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kabuki syndrome
krabbe disease
lamellar ichthyosis
legionellosis
liposarcoma
locked-in syndrome
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
oculocutaneous albinism
omenn syndrome
papillon-lefèvre syndrome
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
systemic capillary leak syndrome
thoracic outlet syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
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