Numerical and Structural Chromosomal Disorders

by Afiqah Umairah

1. Regarding the numerical chromosomal disorder,
(a) Change in chromosomal number has  more severe effect  compared to chromosomal structure
(b)Trisomy 13 is also known as Edward’s sydrome.
(c) Jacob’s disease patients show abnormalities which is characterized by an extra of Y chromosome 
(d) Aneuploidy is the change in the entire set of chromosome  
(e) Loss or  gain of one chromosome is referred as aneuploidy 


2. Regarding Down's syndrome,
(a) Karyotypes of the patients showns an abnormality in the chromosome 18
(b) It usually affect male
(c) The patient tend to have a failure in developing secondary sexual characteristic
(d) Patients will have a higher chances of getting leukimia and infections
(e) Chromosome 18 has an extra of one chromosome

3. Regarding structural chromosomal disorder,
(a) Can be due to inheritance or error in meiosis,
(b) There are four types of disorder in this classifications.
(c) Cri-du-chat syndrome is the example of translocation of chromosome 9 and 22,
(d) Autism is a disease characterised by the deletion of genes at chromosome 15,
(e) Duplication is less harmful than deletion, but extra genetic material can cause birth defects and health problem.

4. Regarding karyotype,
(a) It is the collection of chromosome in an individual,
(b) Useful for detection of abnormalities in fetus of pregnant mother,
(c) 46XY; the number refers to the number of pairs of chromosome,
(d) 47XXX refers to abnormal male,
(e) Abbreviations are commonly used to describe the abnormalities in the karyotype.

5. Regarding mosaicism,
(a) It is defined as aneuploidy detected in the whole cell of an individual,
(b) Individuals who are mosaic tend to have more severe abnormalities compared to those who are full trisomy individuals,
(c) These individuals will not survive as long as compared to those who are full trisomy,
(d) Individuals who are mosaic are said to have chromosomal abnormalities only in a fraction of their cells.