Lecture 7 - C HANGESI N C HROMOS OME NUMBER EUPLOI D:...

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EUPLOID: ANEUPLOID: CHANGES IN CHROMOSOME NUMBER
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Examples of aneuploidy NULLOSOMY: MONOSOMY: DOUBLE MONOSOMY: TRISOMY: TETRASOMY:
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100,000 pregnancies Aberration 15,000 spontaneous abortions: 7,500 chromosomally abnormal 85,000 live births: 550 chromosomally abnormal Trisomy 1 0 0 2 159 0 3 53 0 4 95 0 5 0 0 6-12 561 0 13 128 17 14 275 0 15 318 0 16 1229 0 17 10 0 18 223 13 19-20 52 0 21 350 113 22 424 0 Sex chromosomes XYY 4 46 XXY 4 44 XO 1350 8 XXX 21 44 other: 2244 265 50% abnormal 0.6% abnormal
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Down syndrome Frequency is 1/800 live births. Affects both boys and girls. Some phenotypes: mental retardation, eyes that slant upwards and heart defects. Trisomy 21
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Turner syndrome: Frequency is ~1/2500 live births. Turner woman are often short and lack ovarian development. Other features may be a webbed neck, and arms that turn out atthe elbows. monosomy for X chromosome
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Klinefelter syndrome: Frequency is ~1/1000 live births. Klinefelter men are often tall and lack secondary sex characteristics such as facial, underarm and pubic hair. trisomy for sex chromosomes
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Nondisjunction can happen either at MI or MII MI A A a a A A a a Meiosis I MII A A a a disomic nullosomic Meiosis II a a A A MI A A a a MII A A a a disomic nullosomic
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POLYPLOIDY: BASIC CHROMOSOME NUMBER:
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Karyotype of triploid bunchgrass x = 10; 3x = 30
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Triploid organisms have reduced fertility due to the production of aneuploid gametes. Seedless fruits such as bananas and watermelons are due to triploidy.
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Karyotype of tetraploid bunchgrass x = 10; 4x = 40; n = 20
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There are two different types of polyploidy: AUTOPOLYPLOIDY: ALLOPOLYPLOIDY:
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cabbage 2n = 18 n = 9 radish
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This note was uploaded on 01/27/2010 for the course BIO 89329 taught by Professor Hollingsworth during the Spring '10 term at SUNY Stony Brook.

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Lecture 7 - C HANGESI N C HROMOS OME NUMBER EUPLOI D:...

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