Chromosome Abnormalities Flashcards
1
Q
What is a Barr body?
A
A condensed X chromosome, it is usually the inactive X chromosome in female cells
2
Q
What are the clinical features of Klinefelter Syndrome?
A
- primary hypogonadism
- pubertal gynaecomastia
- small testes
- infertility
- relatively tall stature
- increased risk of health problems that typically affect females
3
Q
How common is Down Syndrome (Trisomy 21)?
A
1 in 1000
4
Q
What is an acrocentric chromosome?
A
chromosome which has a very small p arm
5
Q
What chromosomes can form Robertsonian translocations?
A
Acrocentric chromosomes - 13,14,15, 21, 22
6
Q
What is the chromosome deletion in ‘Cri du Chat’ Syndrome?
A
5p
7
Q
What are the clinical characteristics of Turner Syndrome (45X)?
A
short stature, neck webbing, broad chest with widely spaced nipples, primary amenorrhea, lymphedema of hands and feet
8
Q
What is the treatment for Turner Syndrome?
A
GH in childhood
Oestrogen in adolescence
IVF, egg donation
