2019-3-19

Chromosomes
-Chapt.2,5,6

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Human life: from a chromosomal viewpoint

p

A typical mitotic chromosome

at metaphase
q

karyotyping

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Leptotene Zygotene Pachytene Diplotene Diakinesis

gametogenesis
Synapsis Recombination

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gametogenesis

46

both failure

Endoreduplication

gametogenesis
n
n
n

dispermy

46
digyny
n 2n
both failure n
diandry n n

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45 47

45 47 47

First cleavage Second cleavage

n Two or more different cell lines are

46
present in one individual
n Nondisjunction
n Anaphase lag
46 45 n May have milder phenotype
n WHY?

postzygotic division

Anaphase lag

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4
6 4
7

4 4
6 6 4 4
7 6

4 4
7 5

AFTER ZYGOTE ABNORMAL GAMETE

n Incidence = 1/1000 in male

n Usually taller than average
n Phenotype very variable – some patients
are not diagnosed until they try for a
family
n Before puberty, patients usually have normal
phenotype
n Karyotype: 47,XXY; 47,XXY/46,XY
n Mosaics 47,XXY/46,XY may have milder
phenotype and may be fertile

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n This condition occurs in about 1 in 2,500

female births worldwide
n Most girls with Turner syndrome have
normal intelligence
n Karyotype: 45,X0; 45,X0/46,XX
n Mosaics may have milder phenotype

Growth Hormone

Female Hormone

45,X0

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16th
DAY

X INACTIVATION

BARR BODY

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Barr Bodies

Barr bodies represent the inactive X chromosomes and

are normally found only in female somatic cells. BARR BODY

BARR BODY