Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Thrombocytopenia and cleft hand in monosomy 21.
[monosomy 21]
In
this
report
we
describe
the
hitherto
unreported
association
of
cleft
hand
,
thrombocytopenia
,
facial
dysmorphism
and
mild
mental
retardation
in
a
3
-
year
-old
boy
with
45
,
XY
,
-
21
/
46
,
XY
/
46
,
XY
,
del
(
21
)
(
p
11
)
karyotype
.
A
review
is
given
of
the
occurrence
of
cleft
hand
in
several
types
of
chromosomal
rearrangements
e
.
g
.
deletions
and
translocations
.
Diseases
Validation
Diseases presenting
"thrombocytopenia"
symptom
22q11.2 deletion syndrome
adrenomyeloneuropathy
dedifferentiated liposarcoma
erythropoietic protoporphyria
esophageal adenocarcinoma
heparin-induced thrombocytopenia
hodgkin lymphoma, classical
holt-oram syndrome
homocystinuria without methylmalonic aciduria
liposarcoma
malignant atrophic papulosis
monosomy 21
oculocutaneous albinism
scrub typhus
sneddon syndrome
typhoid
waldenström macroglobulinemia
wiskott-aldrich syndrome
This symptom has already been validated
