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A random Abstract
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Genomic analysis of partial 21q monosomies with variable phenotypes.
[monosomy 21]
Partial
monosomy
21
was
recently
segregated
into
three
regions
associated
with
variable
clinical
severity
.
We
describe
10
new
patients
,
all
examined
by
single
nucleotide
polymorphism
(
SNP
)
genotyping
and
G-
banded
karyotyping
.
Cohort
A
consisted
of
three
patients
seen
in
our
medical
genetics
clinics
with
partial
chromosome
21
monosomies
.
In
two
of
these
patients
having
terminal
deletions
(
21
q
22
.
2
-
ter
and
21
q
22
.
3
-
ter
)
,
the
breakpoints
differed
by
at
least
812
 
Kb
of
sequence
,
containing
seven
RefSeq
genes
.
A
third
patient
had
an
interstitial
hemizygous
loss
of
16
.
4
 
Mb
(
21
q
21
.
1
-
q
22
.
11
)
.
All
three
patients
had
relatively
mild
phenotypes
.
Cohort
B
consisted
of
seven
patients
with
partial
chromosome
21
monosomies
who
had
a
greater
number
of
dysmorphic
features
and
some
major
malformations
;
SNP
genotypes
were
obtained
from
the
Coriell
Genetic
Cell
Repository
.
We
also
collected
data
on
partial
monsomy
21
cases
from
the
DECIPHER
database
.
This
report
of
10
new
cases
of
21
q
deletion
and
review
of
a
total
of
36
confirms
that
deletion
of
the
terminal
region
is
associated
with
a
mild
phenotype
,
but
suggests
that
deletion
of
regions
1
and
2
is
compatible
with
life
and
have
a
variable
phenotype
perhaps
relating
more
to
other
genetic
and
environmental
variables
than
to
genes
in
the
interval
.
