Karyotypes

Karyotypes A picture of someone’s chromosomes Centromere

Has 46 chromosomes for humans Normal 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” chromosome Male * Sex is determined on the 23rd 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 mother’s 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

Klinefelter’s 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

Klinefelter’s Syndrome Karyotype

Turner’s Syndrome (X-) Missing an X chromosome on 23rd Pair.

Symptoms: Infertile Lack Ovarian Development Short Stature Short 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 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 23rd pair, extra “Y” Very Tall Extra Acne during Adolescence Sometimes develop Learning Disabilities

XYY Syndrome Karyotype

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