Human Chromosomes Fig 9.4
Autosomes
Sex-chromosomes.
Nondisjunction. Fig. 11.23
Image leads to aneuploidy.
Nondisjunction
Involving Autosomes
Monosomics
trisomics
Down syndrome Fig. 11.24 (trisomy 21)
age of the
mother. Fig. 11.25
Nondisjunction
Involving the Sex Chromosomes (Fig. 11.26)
Aneuploidy can occur with the sex chromosomes.
Turner's syndrome (sterile females with XO)
Klinefelter's syndrome (sterile males with XXY).
XYY which are
normal males, but tend to be taller than average.
OY are nonviable.
XXX metafemale.
Mostly normal but limited fertility and often taller.
Human
Hereditary Disorders Table 11.3
Family trees, or pedigrees. Fig. 11.27
Sex-Linked
Inheritance and disorders
Hemophilia, can be an autosomal
or sex-linked recessive trait (much more common). Example
Royal family Fig. 11.28a and pedigree Fig. 11.28b
Red-green color-blindness
Autosomal Genetic
Disorders
Autosomal Recessive
Sickle-cell anemia Fig. 11.29
Cystic fibrosis - most common
genetic disorder in Caucasian Americans; 1 in 25 is a carrier. Fig. 11.13. cells image mucus
Tay Sachs - most common in
Jews from Eastern and Central Europe, 1 in 30 are carriers. Fig. 11.32 cells
Autosomal Dominant
Disorders
Huntington's
disease. Fig. 11.33 Neurons
ALS, Lou Gehrig
disease, also a degenerative neural disorder Neurons
Genetic Counseling
and Screening techniques
Amniocentesis - Fig. 11.34
Chorionic
villi sampling - Image
Ultrasound
Fig. 11.35
DNA screening
Chromosomal
karyotype
enzyme activity
genetic markers - mutation
preemplantation genetic screening Fig 11.36
