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21 Cards in this Set
- Front
- Back
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Down's Syndrome Cytology
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Trisomy 21 (95%)
Translocation (3%) Mosaic (2%) |
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Edward's Syndrome Cytology
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Trisomy 18 (most)
Translocation and Mosaic (rare) |
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Patau's Syndrome Cytology
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Trisomy 13 (most)
Translocation (not uncommon) Mosaic (rare) |
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Klinefelter's Syndrome Cytology
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47, XXY (80%)
Mosaic (46,XY/47,XXY) 48,XXXY (rare) 49,XXXXY (very rare) |
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Double-Y Cytology
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47, XYY (most)
48,XXYY (very rare) |
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Turner's Syndrome Cytology
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45,XO (50-60%)
Mosaic (46,XX/45,XO) Deletions (46,XX,Xp or 46,XX,Xq) |
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Superfemale Cytology
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47,XXX (most common)
48,XXXX (rare) 49,XXXXX (rare) |
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Down's Syndrome Incidence
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1/800 Live Births
*Maternal Age Effect (as mentioned 4,327 times in lectures): <25 years: 1/1600 35 years: 1/350 40 years: 1/100 >45 years: 1/25 |
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Edward's Syndrome Incidence
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1/8000 (80% are female)
*Maternal Age Effect *High fetal mortality |
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Patau's Syndrome Incidence
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1/20,000
*Maternal Age Effect *Males and females equally affected |
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Klinefelter's Syndrome Incidence
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1/1,000 male births
*Weak Maternal Age Effect |
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Double Y Incidence
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1/1,000 male births
*Unknown Maternal Age Effect? |
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Turner's Syndrome Incidence
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1/5,000 female births
*rare due to spontaneous abortions |
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Superfemale Incidence
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1/1,000 female births
*Maternal Age Effect |
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Down's Syndrome Abnormalities
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*Short stature
*Small hands/feet *Broad face/neck *Flat occiput *Small ears *Protruding tongue *Slanting eyes (mongolism) *Mental retardation *HEART DEFECTS *Leukemia *Alzheimer *Prone to infection *Male infertility |
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Edward's Syndrome Abnormalities
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*Failure to thrive
*Hypertonicity, clenched fingers *Prominent occiput *Low set, malformed ears *Small chin *Short sternum *Small pelvis *Rocker-bottom feet *Heart defects *Profound mental retardation **Most die within one year |
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Patau's Syndrome Abnormalities
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*Sloping forehead
*Forebrain defects *Eye abnormalities *Cleft lip and palate *Low set, malformed ears *Polydactyly *Heart defects *Profound mental retardation *Deafness **Most die within one year |
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Klinefelter's Syndrome Abnormalities
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*Small testicles
*Long legs *Poor development of secondary sexual characteristics *Gynecomastia *Reduced IQ *Infertility *Low testosterone, estrogen variable *High pituitary gonadotropins (due to reduced androgens) |
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Double Y Abnormalities
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NOT SUFFICIENTLY CONSISTENT, BUT:
*Increased height *Reduced IQ *Increased delinquency |
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Turner's Syndrome Abnormalities
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At birth:
*Peripheral lymphedema affecting dorsum of hands and feet and sides of neck During childhood: *Short stature *Webbing of neck *Broad chest *Widely spaced nipples *Low posterior hairline *Cubitus valgus (high angle at elbow) *Aortic coarctation (narrowing) At puberty *NO puberty *Ovaries degenerated (due to accelerated follicular atresia) *Infertility *Normal intelligence *Low estrogen, high pituitary gonadotropins (trying to stimulate ovarian estrogen production) |
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Superfemale Abnormalities
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NO consistent abnormalities (sometimes mild mental deficiency or dysmorphic features)
*More severe abnormalities in females with 4 or 5 X chromosomes |
