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Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21.
[monosomy 21]
Down
syndrome
(
DS
)
is
one
of
the
most
frequent
congenital
birth
defects
,
and
the
most
common
genetic
cause
of
mental
retardation
.
In
most
cases
,
DS
results
from
the
presence
of
an
extra
copy
of
chromosome
21
.
DS
has
a
complex
phenotype
,
and
a
major
goal
of
DS
research
is
to
identify
genotype-phenotype
correlations
.
Cases
of
partial
trisomy
21
and
other
HSA
21
rearrangements
associated
with
DS
features
could
identify
genomic
regions
associated
with
specific
phenotypes
.
We
have
developed
a
BAC
array
spanning
HSA
21
q
and
used
array
comparative
genome
hybridization
(
aCGH
)
to
enable
high
-resolution
mapping
of
pathogenic
partial
aneuploidies
and
unbalanced
translocations
involving
HSA
21
.
We
report
the
identification
and
mapping
of
30
pathogenic
chromosomal
aberrations
of
HSA
21
consisting
of
19
partial
trisomies
and
11
partial
monosomies
for
different
segments
of
HSA
21
.
The
breakpoints
have
been
mapped
to
within
approximately
85
kb
.
The
majority
of
the
breakpoints
(
26
of
30
)
for
the
partial
aneuploidies
map
within
a
10
-
Mb
region
.
Our
data
argue
against
a
single
DS
critical
region
.
We
identify
susceptibility
regions
for
25
phenotypes
for
DS
and
27
regions
for
monosomy
21
.
However
,
most
of
these
regions
are
still
broad
,
and
more
cases
are
needed
to
narrow
down
the
phenotypic
maps
to
a
reasonable
number
of
candidate
genomic
elements
per
phenotype
.
Diseases
Validation
Diseases presenting
"partial trisomies"
symptom
monosomy 21
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