KARYOTYPE KARYOTYPE Picture of chromosomes from Prophase Purpose: analyzing of chromosomes for abnormalities Answer first question on right hand side. NORMAL FEMALE NORMAL MALE TERMS TO KNOW Autosomes – chromosomes 1-22 Sex chromosome – chromosome 23 Monosomy - missing a chromosome (2n-1) Trisomy - one extra chromosome (2n+1) Nondisjunction - when chromosomes fail to separate properly Answer questions on right hand side. LET’S REVIEW…. How many chromosomes come from your Father? 23 How many chromosomes come from your Mother? 23 What are chromosome pairs 1-22 called? Autosomes What is chromosome pair 23 called? Sex chromosome TURNER’S SYNDROME Missing a X chromosome on 23rd chromosome Causes underdeveloped ovaries, short stature, webbed, and only found in women. Bull neck and broad chest. Individuals are sterile and lack expected secondary sexual characteristics. Mentally handicapped typically not evident. KLEINFELTER’S SYNDROME (OR KLINEFLETER’S) Caused by nondisjunction of the X chromosome on 23rd chromosome (XXY, XXYY) Males with some development of breast tissue Individuals have little body hair, typically tall, and have small testes. Infertility results from absent sperm. Mentally handicapped may or may not be present. DOWN’S SYNDROME Caused by non-disjunction of the 21st chromosome. The individual has a trisomy 21. THE VERY TRAGIC DISEASE… HAIRY EARS Y-linked trait, which is extremely rare. Symptoms… hairy ears Only 1 cure known…. FLIP PAPER OVER KARYOTYPE PRACTICE: CIRCLE ANY ABNORMALITIES Trisomy 21 = Down’s Syndrome #2 #1 XO = Turner’s Syndrome FLIP PAPER OVER KARYOTYPE PRACTICE: CIRCLE ANY ABNORMALITIES Trisomy 18 = Edward’s Syndrome #4 #3 XXY = Kleinfelter’s Syndrome FLIP PAPER OVER KARYOTYPE PRACTICE: CIRCLE ANY ABNORMALITIES Trisomy 13 = Patau Syndrome #5 PEDIGREE PEDIGREE Diagram that shows how a trait is passed from generation to generation Key: Female (normal) Female (has the trait) Male (normal) Male (has the trait) Married Married (husband and wife) Siblings (brothers and sister) Carrier HOW TO READ PEDIGREES? How many generations are shown? 3 How many affected people are there? 7 How many affected people are female? 4 How many affected people are male? 3 SEX-LINKED RECESSIVE PEDIGREE All carriers are female. Most affected are male. Answer last question on right hand side.