1.

"Brachycephaly"
is a symptom of
down's
syndrome. What
is it?
It is a flat head that can seen best from
the sides. It forms from a premature
fusion of the coronal sutures between the
frontal and parietal bones.
2. "Brushfield
spots" are
another sign for
diagnosis of
Down's
syndrome. What
do they look like?
They look like white spots in a nebulous
ring around the iris of the eye.
3. "epicanthal
folds" and
"upward slanting
palpebral
fissures" are
common
symptoms of
Down's
syndrome. What
are they?
epicanthal folds = the vertical fish eye like
folds of skin that are on the in side of the
eyes closer to the bridge of the nose.
(there's a better picture of it in the turner's
syndrome case.
Upward slanting palpebral fissures = the
upslant in the eyeline
4. "Overfolding of the
upper helix of the ear"
and "small pinnae"
are diagnostics signs
of Down's syndrome.
What do they look
like?
5. "Transverse palmar
crease" and
"brachydactyly"(short
fingers) are clinical
signs of Down's
syndrome. What do
these look like?
transverse palmar crease = the classic big
crease straight across the upper middle of
the palm
brachydactyly = short fingers
6. Although frequency
and overall lifetime
severity of symptoms
is intermediate
between Trisomy 21
and Trisomy 13,
Mortality for Trisomy
18 is similar to
mortality for trisomy
13. T/F?
True.
7. Blake Downs
pmemory mneumonic
Blake Downs has huge white clown hand
with transverse palmer crease, big toe
separate from adjacent toe, paintbrush
brushing white spots onto his iris,
flattened head, flattened ear, epicanthal
folds an epi pen on top of the glass ball
stopper of a decanter (epicanthal folds)
near epicanthal folds of eyes, and upward
slanting eyes (upward slanting palpebral
fissures), small penis and infertility in
males (red cross sign, crotch),
Chromosome Abnormalities
Study online at quizlet.com/_fyuou
8. Epicanthal folds
(of the eyes) and
abnormal ears
are also
symptoms of
Turner
Syndrome. T/F?
True
9. How is Turner
syndrome
treated?
1) Growth hormone injections, daily
2) Hormone therapy when age
appropriate
10. Hypotonia, open
mouth,
protruding
tongue in an
infant are
characteristic of
what common
genetic
disorder?
Down's syndrome! Trisomy 21 (95%
caused by full trisomy, sometimes also by
translocation or mosaicism)
11. Micro-deletion
of chromosome
7q11.23 is the
defining
characteristic of
which genetic
disorder?
William's Syndrome
FISH on left shows that there is no
second red light which should be attached
to chromosome 7 on the long arm at
region 11.23, but it's not there.
12. Severe mental
retardation and
hypertonic
(increased
muscle tone,
eventually) are
symptoms of
trisomy 18. T/F?
True
13. Short stature,
lack of
secondary
female sex
characteristics,
webbed neck
(redundant neck
skin), sterility,
Mean IQ < verbal
scores (but not
really cognitively
impaired),
ovarian
dysgenesis
(starts out as a
normal ovaries,
but then slowly
replaced by
fibrous streaks),
are clinical signs
of what genetic
disorder?
Turner syndrome. Only 1 X chromosome.
14. Symptoms of
William's
Syndrome
Pmem: girl w/ guitar from Layla's party
with a deer in her ear (chromosome 7)
15. There are
congenital heart
defects in 30-
40% of patients
with Down's
syndrome. T/F?
true.
16. Trisomy 13, also
has heart defects
and bad
problems such
testicular
descent and
bicornuate
uterus (basically
split uterus)
17. Trisomy 13, cleft
lip and palate
18. Trisomy 13,
post-axial
polydactyly
19. Trisomy 13,
prominent heel
20. Underdevelopment
(Hypoplasia) of
skeletal muscle
and subcutaneous
tissue, small size
(for gestational
age), altered
gestational timing
(1/3 premature
babies, 1/3
postmature
babies), small
placenta, single
umbilical artery
(as opposed to
many), too much
amniotic fluid
(polyhydramnios)
are all clinical
signs of what
genetic trisomy
disorder?
Trisomy 18
Pmem: AnGel (18) holding this poor
hypoplasiac, malformed baby, has
overlapping clenched fist, charrow trying
to abduct hips (but can't)
21. What is trisomy
13? How severe is it
compared to
Down's syndrome?
extra chromosome 13. More rare and
more sever than down's. severe cognitive
impairment, , post-axial polydactyly
(extra digit
Trisomy 13 pmem: In the spade shaped
space of the NiB, baby crying with cleft lip
and very severely deformed face, cranial
cleft, Giant, 6 digit foot
22. With treatment,
babies born with
Trisomy 13 can live
relatively long
lives. T/F?
False. 82% die by 12 months of age.