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A picture of someones chromosomes Centromere
Normal Karyotypes Has 46 chromosomes for humans Arranged in 23 pairs
Female Sex is determined on the 23 rd Pair. Both chromosomes are X chromosomes X
Male * Sex is determined on the 23 rd pair. *One chromosome is X and the other is a Y chromosome
Trisomy 21 – Down Syndrome Extra Chromosome on 21 Total of 47 Chromosomes
Symptoms: Flat Face Small Broad Nose Upward Slanted Eyes Moderate to Severe Retardation Some Medical Problems (Heart Defects) 90% of cases come from the mothers egg.
Down Syndrome Karyotype
Trisomy 13 – Patau Syndrome Extra Chromosome on 13 Total of 47 Chromosomes
Symptoms: Cleft lip or palate Close-set eyes -- eyes may actually fuse together into one Decreased muscle tone Extra fingers or toes Mental retardation
Patau Syndrome Karyotype
Klinefelters Syndrome (XXY) Extra Sex Chromosome X Total of 47 Chromosomes
Symptoms: Tall Stature Sometimes Lack Facial Hair More Breast Tissue than Normal Small Testes Sterile
Klinefelters Syndrome Karyotype
Turners Syndrome (X-) Missing an X chromosome on 23 rd Pair.
Symptoms: Infertile Lack Ovarian Development Short Stature Short Webbed Neck In 75-80% of cases, the fathers sperm is missing the X chromosome.
Turners 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 births –Prevents development of Penis and other male body parts. –Look like females, have no uterus and no menstruation.
Incomplete AIS: –Both male and female characteristics –Has a vagina, but no uterus or cervix –Enlarged Clitoris –Testes in the abdomen or unusual places
XYY Syndrome Occurs on 23 rd pair, extra Y Very Tall Extra Acne during Adolescence Sometimes develop Learning Disabilities
XYY Syndrome Karyotype
Karyotypes. a picture of someones chromosomes Centromere.
What is a Karyotype? Karyotype: picture of an individuals chromosomes arranged in homologous pairs. Chromosomes are usually extracted during METAPHASE.
Genotype Specificity Karyotypes of Chromosomal Disorders
Mistakes in Meiosis. Nondisjunction The failure of homologous chromosomes to separate properly during meiosis. What should happen Nondisjunction.
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BY: TAYLOR PALACINO Cri du Chat. How it is inherited… Occurs with a deletion in the end of the arm of chromosome 5 The deletion happens randomly when.
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