Karyotypes and Genetic Disorders

Normal Male

Normal Female

Metafemale / Triple X Syndrome

Only affecting females Inherit 3 X chromosomes Usually an inch or so taller Unusually long legs and slender torsos Normal sexual characteristics Fertile Slight learning difficulties 1/1000

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Down Syndrome 3 chromosomes on pair 21 Short and stocky Shorter appendages Broad faces with saddle back nose profiles Thicker tongues Incidence goes up rapidly with age of mother

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XYY Syndrome Affecting only males Inherit extra Y chromosome Tall, over 6 feet Act normal Severe acne during adolescence Many are unaware of having abnormality 1/900 – 1/2000 depending on different studies

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Turner Syndrome Only one X chromosome Genotype is XO Average height is 4’7” Webbed Necks (extra folds of skin) Small breasts Ovaries don’t develop normally Sterile Slight mental retardation 1/3,000-1/10,000

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Klinefelter’s Syndrome XXY or more rarely XXXY or XXXXY Asexual to feminine body Enlarged breasts Little body hair Sterile Small penis, testis, and prostate gland Many have normal appearance 1/500 – 1/1000