9/01/05 genetics
Terms
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copy deck
- Caused by the division of chromosome along horizontal axis instead vertically at centromere
- Isochromosome
- deletion at the end of a chromosome
- Terminal Deletion
- Deletion at the middle of an arm
- Interstitial deletions
- breaks at long arm and short arm of chromosome produce sticky ends which fuse
- Ring Chromosome
-
47,XXY
Tall stature
lack secondary sex characteristics
hypogonadism
+ correlation to age of mother - Klinefelter syndrome
-
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
-
disease with marked obesity
short stature
mild learning problems
small hands and feet
very floppy
15q11q13 deletion from paternal origin - Prader Willi syndrome
-
15q11q13 deletion of maternal origin
seizures
severe mental retardation
absent speech
ataxia - Angelman Syndrome
-
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 - Fragile X syndrome
- only 1 active X/diploid set autosomes, all others inactivated and form Barr bodies(condensed Xchromation at nucleus periphry) germ line not inactivated activated
- The Lyon hypothesis
- abnormal X is ________ in every cell and forms the _____
-
inactivated
Barr body - X/autosome translocation usually is __________ and the normal X is _________
-
active
inactive and forms Barr body