Chromosome number Flashcards
A change in chromosome number
Aneuploidy
What does aneuploidy usually arise from?
Non-disjunction
What is mongolism?
An antiquated term for Down’s Syndrome
Down’s syndrome is aneuploidy of
Chromosome 21
What is the mutation in Down’s Syndrome?
Trisomy 21
How common is Down’s Syndrome?
Fairly common, about 1 in 800
How was Down’s Syndrome diagnosed before chromosomal tests?
Single palmar crease, but already present in about 3% of population anyway
What environmental factor is known to greatly increase the risk of Down’s Syndrome?
The age of the mother
What are the characteristics of Klinefelter?
Male, but with female traits
Klinefelter karyotype:
XXY up too 6XY
What is a “supermale?”
XYY; supposed association with criminal behavior, many are unaware of having this
What does XO karyotype result in?
Turner Syndrome
What are the characteristics of Turner syndrome?
Sterile female, vast majority of cases spontaneously abort
What is the “superfemale” karyotype?
XXX up to 8X
How debilitating are trisomies generally?
Very, chromosome 21 is smallest, and sex chromosomes controlled by lyonisation, so effect is not as big