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12 Cards in this Set

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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 observe
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