Genetic
Disorders
____________________
:
XO
,
female
,
short
stature
,
webbed
neck
,
lacks
female
secondary
sex
characteristics
45X
karyotype
Kleinfelter's
:
XXY
,
tall
male
,
low
IQ
,
____________________
atrophy
,
____________________
,
sterile
Down's
:
Trisomy
____________________
,
male
or
female
,
retarded
____________________
X
:
the
most
common
form
of
mental
retardation
involving
a
minimum
of
2
X
chromosomes
and
one
or
more
Y
chromosomes
Phenylketonuria
:
cannot
convert
phenylalanine
to
____________________
due
to
lack
of
phenylalanine
hydrolase
,
retardation
can
be
controlled
by
diet
if
caught
early
Von
Gierke's
:
lacks
enzyme
to
breakdown
glycogen
.
Excessive
amounts
of
glycogen
deposited
in
the
____________________
Tay
Sachs
:
increased
ganglioside
content
in
the
brain
(
glycosphingolipid
)
,
hexosaminidase
A
deficiency
,
cherry
red
spots
in
the
____________________
,
infant
death
____________________
:
excess
glucocerebroside
in
the
brain
,
liver
and
spleen
Krabbe's
:
excess
galactocerebroside
in
____________________
matter
.
Niemann
Pick's
:
abnormal
increase
____________________
Alkaptonuria
:
accumulation
of
homogentisic
acid
,
blue
black
deposits
in
the
ears
,
nose
and
cheeks
.
Produces
ochronosis
causing
calcification
of
the
discs
of
the
spine
.
Urine
turns
____________________
on
standing
Duchenne's
MD
:
seen
mostly
in
____________________
3
-
7
years
of
age
.
Produces
hypertrophy
of
the
calf
muscles
.
Recessive
sex
linked
gene
.
Increased
CPK
Teratoma
:
____________________
of
all
three
germinal
layers
.
Adenoma
:
tumor
of
____________________
tissue
____________________
:
cancer
of
the
stomach
that
metastasizes
to
the
ovary
.
Wilm's
:
Mixed
tumor
of
the
kidney
in
____________________
.
____________________
:
tumor
of
smooth
muscle
(
fibroids
in
the
uterus
)
Rhabdomyoma
:
tumor
of
____________________
muscle
or
heart
muscle
Osteosarcoma
:
most
common
bone
cancer
in
____________________
Multiple
myeloma
:
most
common
____________________
malignancy
in
adults
____________________
:
most
common
form
of
cancer
in
the
spine
Lipoma
:
fatty
tumor
____________________
:
benign
tumor
of
blood
vessels
Xanthoma
:
yellow
tumor
of
connective
tumor
Chondroma
:
benign
tumor
of
____________________
Papilloma
:
associated
with
____________________
____________________
:
cancer
of
testes
,
most
common
Virchow's
nodes
:
enlarged
____________________
lymph
nodes
due
to
metastasis
,
usually
GI
trac
t
