Rare Diseases Symptoms Automatic Extraction
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Apparent monosomy 21 owing to a ring 21 chromosome: parental origin revealed by DNA analysis.
[monosomy 21]
A
three
and
a
half
year
old
mildly
retarded
boy
is
presented
.
Karyotyping
showed
monosomy
21
(
45
,
XY
,
-
21
)
in
all
50
metaphase
spreads
examined
from
two
lymphocyte
cultures
,
and
in
20
%
of
cells
examined
from
cultured
fibroblasts
;
the
remaining
80
%
of
cells
showed
a
ring
21
chromosome
(
46
,
XY
,
r
(
21
)
(
p
1
q
22
]
.
Molecular
studies
using
chromosome
21
specific
DNA
probes
confirmed
the
monosomy
in
blood
and
showed
that
the
ring
21
chromosome
was
paternal
in
origin
.
Parental
karyotypes
were
normal
.