1. Karyotyping

2. Karyotyping Techniques:
1) Chorionic Villus Sampling (CVS) – performed at 8 to 10 weeks gestation.
2) Amniocentesis – performed at 14 to 16 weeks gestation

3. Some disorders checked for by amniocentesis are:

4. Ultrasound

5. Amniocentesis

8. Process used to grow the baby’s cells

11. Chromosomes are arranged in size order # 1 to 22 followed by the sex chromosomes(#23)
Karyotype 1

12. Description of Karyotype 1
Gender: Female
# of Chromosomes: 46
Disorder: No

13. Karyotype 2
Three chromosomes at one spot (instead of 2) is called TRISOMY.
This karyotype is showing TRISOMY 21 aka Down’s Syndrome

14. Description of Karyotype 2
Gender: Female
# of Chromosomes: 47
Disorder: Trisomy 21 a.k.a. Down’s Syndrome
Unfortunately, it’s the most common trisomy disorder.

15. What is Down’s Syndrome?
Down syndrome
some degree of mental retardation
characteristic facial features.
Sometimes have congenital heart defects
Many have some visual and hearing impairment.
The severity varies greatly.

16. Karyotype 3

17. Description of Karyotype 3
Gender: Male
# of Chromosomes: 47
Disorder: Trisomy 18
a.k.a. Edward’s syndrome
Rick Santorum (republican candidate) and his daughter, Isabella, who has Trisomy 18

18. What is Edward’s Syndrome?
Trisomy 18 is usually fatal*, with most of the babies dying before birth and those who do make it to birth typically living only a few days. However, a small number of babies (<10%) live at least one year.
* characteristics include: a hole between the upper and/or lower chambers of the heart, a narrowing of the exit vessel from the heart, kidney abnormalities, a portion of the intestinal tract can be located outside the stomach in a sac, the esophagus does not connect to the stomach, meaning the baby cannot eat by mouth, clenched hands, rocker bottom feet, small jaw, and developmental delays.

19. Karyotype 4

20. Description of Karyotype 4
Gender: Female
# of Chromosomes: 45
Disorder: Turner’s Syndrome (only 1 X)

21. Turner’s Syndrome
Absent or incomplete development at puberty, including sparse pubic hair and small breasts
Broad, flat chest shaped like a shield
Drooping eyelids and dry eyes
Possible Infertility
No periods (absent menstruation)
Short height

22. Karyotype 5

23. Description of Karyotype 5
Gender: male
# of Chromosomes: 47
Disorder:
Klinefelter’s Syndrome

24. Klinefelter’s
low levels of the hormone testosterone beginning during puberty.
Possible breast development (gynecomastia),
reduced facial and body hair
Possible infertility
Female fat distribution (wide hips)

25. Photo of Klinefelter’s Syndrome

26. Karyotype 6

27. Karyotype 6 Gender: Female # of Chromosomes: 47 Disorder: yes
Trisomy 13: Patau Syndrome

28. Trisomy 13: Patau Syndrome
Polydactyl
Cleft palate
Mental retardation
90 -95% die within the first year

29. Hermaphrodite Genetically XX XY 48 Chromosomes
Has both female and male genitalia.
extremely rare