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extra chromosome 13
TRISOMY 13 SYNDROME
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47XY13+ OR 47XY13+
TRISOMY 13 SYNDROME
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midline body disorders such as cleft lip ad palate, heart disorders, abnormal genitalia
TRISOMY 13 SYNDROME
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microcephaly
small eyes (micropthalmos)
low set ears
multiple hair whorls
wide-set nipples
cognitively challenged
multiple congenital malformations
eye agenesis
trisomy 13 syndrome
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aka Patau syndrome
trisomy 13
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aka edwards syndrome
trisomy 18 syndrome
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47XX18+ OR 47XY18+
trisomy 18 syndrome
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three copies of chromosome 18
trisomy 18
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low-set ears
small for gestational age
small jaw
congenital heart defects
misshapen fingers and toes (overriding of fingers)
rounded soles (rocker-bottom feet)
trisomy 18
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characteristics present in both t13 and t18
- microcephaly
- low set ears
- multiple hair whorls
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most do not survive beyond early childhood
T13
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most do not survive beyond infancy
T18
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missing portion of chromosome 5
cri-du-chat syndrome
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cries like a cat
cri-du-chat
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small head
wide-set eyes
downward slant to the palpebral fissure
recessed mandible
severely cognitively challenged
cri-du-chat
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46XX5P- OR 46XY5P-
cri-du-chat
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aka gonadal dysgenesis
turner
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only 1 functional x chromosome
turner
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short stature
low-set hairline
streak ovaries
sterile
no secondary sex characteristics except for pubic hair
neck webbed and short
newborn has edema on feet and hands
turner
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can be identified thru sonogram bcuz of the extra skin on the sides of the neck
turner
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lack of fertility, prominent nuchal folds
turner
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2 X chromosomes and 1 Y chromosome
Klinefelter syndrome
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secondary sex characteristics do not develop
testes remain small, produce ineffective sperm
gynecomastia
klinefelter
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most common cause of cognitive challenge in biological males
fragile x syndrome
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1 long arm of an X chromosome is defective
fragile x
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maladaptive behaviors (hyperactivity, aggression, autism)
fragile x
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long face, high forehead/prominent forehead (bossing)
large head
prominent lower jaw
large protruding ears
obesity
enlarged testicles after puberty
large hands
fragile x
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most frequently occurring chromosomal disorder about 1 in 800 pregnancies
Trisomy 21 / down syndrome
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47XX21+ OR 47XY21+
Trisomy 21
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broad and flat nose
extra fold of tissue @inner canthus (epicanthal fold)
laterally upward palpebral fissure
white specks @ iris of the eye (brushfields spots)
protruding tongue
back of the head is flat
short neck
extra pad of fat at the base of the head
low-set ears
poor muscle tone
short and thick fingers
single horizntal crease @ palms
trisomy 21
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Iq of ppl w/ down syndrome
70-20
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childhood tumors
- retinoblastoma (c13)
- Wilms tumor (c11)
- neuroblastoma (c1 or 11)
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