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I{uman Karyotypes

Purpose
Io examine and prepare human karyotype
charts
Figure 1. A human karyotype (left) and karyotype chart (nght).
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; F 6 o* cd- Special staining techniques revear right and dark regions (bands) on the
8p5g:5HB chromosomes. By matching the bands, rt rs qurte easy to identify specifrc
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9.€ 6; 8:: f Table 1. Some chromosome aberrations in humans.
c .:lhromosome SYndrome
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TcSFEPSH (condition)
Effects on individual
abnormalitY (variable)
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XO Turner's . sterile lemale
. underdeveloped female characteristics
(E
o €E6-Pe'; . short stature
;t- . sometimes below normal intelligence

XXY Klinefelter's . sterile male


. abnormal male chacteristics
. abnormally long arms and legs
. below normal intelligence
Trisomy #21 . low mental ability
. short arms and legs
o internal detects
o distinct facial features

Trisomy #18 Edward's . severe abnormalities


. fife expectancy about 10 weeks

Trisomy #13 Patan's . severe defects rncluding small, non{unctionrng eyes


. survive only a few weeks atter birth.

Defective #5 Cri du chat . severe defects, both physical and mental


(part of . sound, when crying, similar to cat's meow
chromosome
missing)

)up|cation 3q Allderdices . multiple effects on organ systems


. short limbs
. usually die within a lew weeks of birth

Duplication 9q Allderdice's . grows to be tall and thin


. very little speech
. requires custodial care _
Prenatal diagnosrs is available {or all these conditions
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