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Karyotypes A picture of someone’s chromosomes Centromere
Has 46 chromosomes for humansNormal Karyotypes Has 46 chromosomes for humans Arranged in 23 pairs
Female Sex is determined on the 23rd Pair.Both chromosomes are “X” chromosomes X
*One chromosome is “X” and the other is a “Y” chromosomeMale * Sex is determined on the 23rd pair. *One chromosome is “X” and the other is a “Y” chromosome
Trisomy 21 – Down SyndromeExtra Chromosome on 21 Total of 47 Chromosomes
Symptoms: Flat Face Small Broad Nose Upward Slanted EyesModerate to Severe Retardation Some Medical Problems (Heart Defects) 90% of cases come from the mother’s egg.
Down Syndrome Karyotype
Trisomy 13 – Patau SyndromeExtra Chromosome on 13 Total of 47 Chromosomes
Symptoms: Cleft lip or palateClose-set eyes -- eyes may actually fuse together into one Decreased muscle tone Extra fingers or toes Mental retardation
Patau Syndrome Karyotype
Klinefelter’s Syndrome (XXY)Extra Sex Chromosome “X” Total of 47 Chromosomes
Symptoms: Tall Stature Sometimes Lack Facial HairMore Breast Tissue than Normal Small Testes Sterile
Klinefelter’s Syndrome Karyotype
Turner’s Syndrome (X-)Missing an X chromosome on 23rd Pair.
Symptoms: Infertile Lack Ovarian Development Short StatureShort Webbed Neck In 75-80% of cases, the father’s sperm is missing the X chromosome.
Turner’s Syndrome Karyotype
Androgen Insensitivity Syndrome (AIS)Genetic make-up of an XY male Develop as a Female Resistant to Androgens the hormones responsible for male sexual development * EX: JAMIE LEE CURTIS
2 Types: Complete AIS: 1 in 20,000 birthsPrevents development of Penis and other male body parts. Look like females, have no uterus and no menstruation.
Incomplete AIS: Both male and female characteristicsHas a vagina, but no uterus or cervix Enlarged Clitoris Testes in the abdomen or unusual places
XYY Syndrome Occurs on 23rd pair, extra “Y” Very TallExtra Acne during Adolescence Sometimes develop Learning Disabilities
XYY Syndrome Karyotype
What is a Karyotype? Karyotype: picture of an individual’s chromosomes arranged in homologous pairs. Chromosomes are usually extracted during METAPHASE.
Karyotypes of Chromosomal Disorders
ASSESSMENT REMINDER: If you FAIL (below 70%) an assessment, regardless of the type, you can retest (following reteach) the objective you failed for a maximum.
Karyotypes A karyotype is a map of an individual’s chromosomes. Karyotypes are normally used if a chromosomal genetic disorder is suspected in an individual.
February 23, 2009 Objective: Discuss the effects of nondisjunction
Human Genetic Disorders
Most mammals have one pair of sex chromosomes Males Females
Nondisjunction Homework for 11/13/14
Numerical chromosome Aberrations
Karyotypes & Genetic Disorders
Autosomal and Sex chromosome abnormalities
Human Genetics – Studying Chromosomes & Diseases Biology.
Karyotype and Chromosomal Mutation Notes
Chromosomal Mutations & their effects
Chromosomal Karyotypes. Chromosomes Definition Genetic structures of cells containing DNA Identification Each chromosome has a characteristic length and.
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