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Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of Holt-Oram and ulnar-mammary syndromes.
[holt-oram syndrome]
We
report
on
a
combination
of
congenital
malformations
in
a
mother
and
her
fetus
harboring
a
heterozygous
deletion
encompassing
the
TBX
5
and
TBX
3
genes
,
which
are
disease-causing
in
Holt
-
Oram
and
ulnar
-mammary
syndromes
,
respectively
.
This
contiguous
gene
syndrome
is
reminiscent
of
Okihiro
syndrome
and
emphasizes
the
importance
of
array-
CGH
as
a
diagnostic
tool
in
atypical
syndromic
presentations
with
intrafamilial
variability
.
Diseases
Validation
Diseases presenting
"congenital malformations in a mother"
symptom
holt-oram syndrome
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