Chromosomal disorders Flashcards
1
Q
What percentage of recognized pregnancies end in miscarriage?
A
15%, most in first trimester
2
Q
What is the most common trisomy leading to spontaneous abortion in the first trimester?
A
16+
3
Q
What are the chromosomes are associated with viability when present in the full aneuploidy state
A
13, 18, 21, X, Y
4
Q
What are the types of chromosome translocation?
A
Robertsonian (fusion of two acrocentric chromosomes)
Reciprocal (p-arms of two acrocentric chromosomes swapped)
5
Q
What are the acrocentric chromosomes?
A
13, 14, 15
The p-arm of the chromosomes is really short, basically at the acrosome
