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12 Cards in this Set
- Front
- Back
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Caused by the division of chromosome along horizontal axis instead vertically at centromere
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Isochromosome
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deletion at the end of a chromosome
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Terminal Deletion
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Deletion at the middle of an arm
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Interstitial deletions
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breaks at long arm and short arm of chromosome produce sticky ends which fuse
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Ring Chromosome
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47,XXY
Tall stature lack secondary sex characteristics hypogonadism + correlation to age of mother |
Klinefelter syndrome
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5p dletion of short arm of chromosome 5
cat like cry round face downturned mouth corners micrognathia (small chin) heart murmur hypertelorism (large space btw eyes) epicanthan fold mental retardation |
Cri du chat syndrome
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disease with marked obesity
short stature mild learning problems small hands and feet very floppy 15q11q13 deletion from paternal origin |
Prader Willi syndrome
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15q11q13 deletion of maternal origin
seizures severe mental retardation absent speech ataxia |
Angelman Syndrome
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disease: Mental retardation
large simple ears broad nose repetitive speech pattern long narrow face macroorchidism altered geentic material(fragile site at distal end of X chromosome) Xq27.3 must grown in folic acid to observe |
Fragile X syndrome
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only 1 active X/diploid set autosomes, all others inactivated and form Barr bodies(condensed Xchromation at nucleus periphry) germ line not inactivated activated
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The Lyon hypothesis
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abnormal X is ________ in every cell and forms the _____
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inactivated
Barr body |
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X/autosome translocation usually is __________ and the normal X is _________
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active
inactive and forms Barr body |
