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Chromosomes

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Homologous chromosomes line up in a double file in metaphase I of meiosis. 8 ... Single crease across palm. Slanted eyes. Usually Mental retardation. 18 ... – PowerPoint PPT presentation

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Title: Chromosomes


1
Chromosomes
2
Chromosome
  • Long molecule of DNA
  • 46 human chromosomes
  • 23 pair
  • Inherit 23 from each parent

3
Single Chromosome
4
Doubled Chromosome
5
Doubled Chromosome
Telomeres
q arm
Telomeres
6
Types of Chromosomes
7
Homologous chromosomes line up in a double file
in metaphase I of meiosis
8
Homologous Pairs Separate
9
Four Gametes With Single Chromosomes
10
Fertilization
11
Nondisjunction
One pair of chromosomes fails to separate during
meiosis
12
Trisomy
Zygote ends up with 3 chromosomes instead of 2
for a given pair of chromosome.
13
Karyotype
  • Picture of chromosomes
  • Often arranged with autosomes in descending
    order and sex chromosomes separate

14
Normal Male
15
Normal Female
16
Trisomy 21Down Syndrome
17
Down Syndrome
  • Large tongue
  • Flat face
  • Single crease across palm
  • Slanted eyes
  • Usually Mental retardation

18
Maternal Age Down Syndrome
19
Trisomy 18Edward Syndrome
20
Edward Syndrome
  • Heart defects
  • Displaced liver
  • Abnormal hands
  • Low-set ears
  • Severe retardation
  • 98 abort
  • Lifespan lt 1 year

21
Trisomy 13Patau Syndrome
22
Patau Syndrome
  • Cleft lip and palate
  • Extra fingers toes
  • polydactylism
  • Defects
  • Heart
  • Brain
  • Kidney
  • Most abort
  • Live span lt 1 month

23
Klinefelter Syndrome
24
Klinefelter Syndrome
  • Breast development
  • Small testes
  • Sterile
  • Low intelligence

25
Turner Syndrome
26
Turner Syndrome
  • Short
  • Not go through puberty
  • Produce little estrogen
  • Sterile
  • Extra skin on neck

27
Jacobs Syndrome
28
Jacobs Syndrome
  • Xyy
  • Tall
  • Acne
  • Slightly lower average IQ than Xy

29
Abnormal Chromosome Numbers
  • Aneuploidy
  • Missing or extra chromosome
  • Polyploidy
  • Extra set of chromosomes
  • Usually lethal
  • Common in cancer
  • Common in plants

30
Fetal testing can determine abnormal karyotypes
31
Map of Chromosome 3
  • Shows location of genes
  • 3q26 has sucrose intolerance gene
  • Kidney cancer gene in 3p14

32
Terminology
3q26
Chromosome 3
Region 26
q arm
33
9p21
34
(No Transcript)
35
Leukemia
  • Cancer that is often the result of various
    chromosomal aberrations

36
Translocation
  • Part of a chromosome attaches to a nonhomologous
    chromosome

37
Translocation of Between Chromosomes 1 and 3
  • Part of chromosome 3 attached to chromosome 1
  • Acute myeloid leukemia

38
Inversion
A
B
C
  • Part of a chromosome is inverted

D
E
F
I
H
G
J
39
Inversion of Chromosome 16
  • Inversion between p13 and q22
  • Chromosome on right
  • Acute myeloid leukemia

40
Deletion
  • Part of a chromosome is deleted

41
Cat Cry Syndrome
  • Deletion of q arm on chromosome 5
  • 5p-
  • High-pitched cry like a cat
  • Large ears
  • Retarded

42
Duplication
  • Part of a chromosome is duplicated

I
J
43
Chromosome 10q duplication syndrome
  • Mental retardation
  • Defects in many organs
  • Heart
  • Kidneys
  • Bones
  • Muscles
  • Life span less than 1 year

44
The End
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