1. Karyotypes

2. Metaphase Human Chromosomes

3. DNA
Proteins

5. How Karyotypes are Created
Well-stained metaphase spreads are photographed
Each of chromosome images is cut out of the picture
Matched with its partner
Arranged from largest to smallest on a chart
The largest autosome is number 1

6. Classification of solid-stained chromosomes
Metacentric chromosomes: centromere in the middle.
Acrocentric chromosomes: centromere close to one end; this gives very short p-arm.
Submetracentric chromosomes: centromere positioned between these two extremes.

10. Normal Female Karyotype

11. Normal Male Karyotype

12. Patau Syndrome. trisomy 13 (47, XX, +13).
It is rare for fetuses to go to term; less than 5% reach 3 years.
Cleft lip and palate, broad nose, small cranium, polydactyl, deafness, and nonfunctional eyes, heart defects and severe mental retardation.

13. Down syndrome – Trisomy /6 die within the first year and the average life span is 16.2 years. mental retardation - IQ between
Short stature, broad hands, stubby fingers and toes, a wide rounded face, a large protruding tongue that makes speech difficult.
Individuals with this syndrome have a high incidence of respiratory infections, heart defects, and leukemia.

14. Klinefelter's syndrome with a 47, XXY karyotype.
This particular anomaly is relatively common (about 1 in 500 males),
Characteristics associated with this condition are tall stature and sterility.

15. Jacobs Syndrome - 47 XYY karyotype.
Occurence is 1/1000 live male births.
Men with this karyotype are tall and have lower mental ability.

16. Turner's syndrome, with karyotype 45, X.
unable to bear children.
short stature, short broad neck, and a broad chest.
Intelligence does not seem to be affected.

17. Cri-du-chat. - one chromosome #5 upper arm deletion
Babies cry sounds like that of a cat in distress:
severely mentally retarded, round face, low set ears, heart disease, and have a small cranium.

18. Here is an example of trisomy 16
Here is an example of trisomy 16. This is the most common chromosomal abnormality, but the fetuses NEVER survive past the first trimester. Many first trimester fetuses are lost in this fashion (many are "silent" abortions). Note in this case that a sex chromosome is missing as well. Intrauterine demise is nature's way of eliminating abnormal karyotypes.

19. Edwards Syndrome. This karyotype demonstrates trisomy 18 (47, XY, +18)
Edwards Syndrome. This karyotype demonstrates trisomy 18 (47, XY, +18). It is uncommon for fetuses with this condition to survive, so the incidence is only 1 in 8000 live births. Thirty percent of these children die within the first month and only 10% survive one year. It is rare for babies to survive for very long if liveborn because of the multitude of anomalies that are usually present. There is severe mental retardation and a highly characteristic pattern of malformations such as elongated skull, a very narrow pelvis, rocker bottom feet and a grasping of the two central fingers by the thurm and little finger. In addition, the ears are often low set and the mouth and teeth are small. Nearly all babies born with this condition die in early infancy.

20. Karyotypic abnormalities are characteristic of many neoplasms
Karyotypic abnormalities are characteristic of many neoplasms. Here is the so-called "Philadelphia chromosome" of chronic myelogenous leukemia, which is really a 9:22 translocation. A section of the 22 chromosome has been translocated to 9.

21. Wolf Hirshhorn Syndrome
Wolf Hirshhorn Syndrome. This is an example in which a small part of the short arm of chromosome 4 has been lost. This is an example of a deletion. This affects scalp, nose, lips, and palate. Severe malformations of face as well as retinoblastoma (cancer of the eye retinas) can occur. Also known as 4p- syndrome, wolf syndrome, whs, chromosome 4 deletion, chromosome 4, trisomy, mosaic, interstitial deletion, terminal deletion, translocation