Chromosomes Flashcards
Diploid
- 46 chromosomes in human cells
- 23 inherited from each parent
- 22 pairs of autosomes and 2 sex chromosomes
Sex chromosomes
-X and Y
-not homologous but different in size and shape
Male= XY
Women =XX
-haploid cells- chromosomes are not doubled
Centromere
- divides the chromosome into a short arm and a long arm
- short arm= P
- long arm=Q
Metacentric chromosome
- has centromere right in the middle
- p and q arms are of equal length
Acrocentric chromosome
-centromere is placed at one end and so arms are not of equal length
Telocentric
- Centromere is at the tale of the chromosomes
- not seen in humans
Holocentric chromosomes
- entire length of the chromosome acts a the centromere
- not seen in humans
Aneuploidy
-when there are different chromosome numbers to the normal diploid status
.e.g trisomy 21, trisomy 18, monosomy of Turners
-very rarely there are more than 2 copies of the entire chromosome set and have a chromosome number of 69-triploidy and tetraploidy result in spontaneous abortion
Non-disjunction
-chromosome or chromatids fail to separate in meiosis and so one gamete received two copies of that chromosome and one with no copies
-this can result in an extra chromosome- trisonomic
or no chromosome- monosomic
-only individuals with trisomy 13, 18 and 21 survive to birth and most children with trisomy 13 and 18 die in childhood
Mosaic
- sometimes non-disjunction can occur during mitosis immediately after two gametes have fued
- this leads to the formation of 2 cell lineages each with a different chromosomal makeup
- this occurs more frequently with the sex chromosomes and results in ‘mosaic’ individual
- mosaics have milder malformations