Chromosomal Disorders

Genetic Disorder:-Mendalian Disorder |Chromosomal Disorder |OMR

Genetic Disorder|Medalian Disorder|Chromosomal Disorder|OMR

Genetic Disorder:-Mendalian Disorder |Chromosomal Disorder |OMR

The cause of chromosomal disorders is absence or excess of abnormal arrangement of one of more chromosomes. Analysis of karyotypes is used to study the chromosomal disorders. l(aryotype is defined as the profile of an individual's chromosomes that are arranged according to their shape, size and number. Case - Sarika encountered a teenager with short stature and a small round head, furrowed tongue and partially open mouth The palm of the person is broad with characteristic palm crease. She has a doubt that the individual might be suffering from a Chromosomal disorder. On the basis of your reading, answer the following questions: Name the syndrome from which the given individual might be suffering. Describe it along with its symptoms.

Sickle cell anemia is an example of (i) Menedelian disorder (ii) Genetic disorder (iii) Chromosomal disorder (iv) Inborn error of metabolism (v) Point mutation (vi) Frame-Shift mutation (vii) Sex-linked disease (viii) Recessive disorder (ix) Qualitative disorder (x) Quantitative disorder (xi) Autosomal disorder

(i) List the chromosomal disorders a human may suffer from if karyotype analysis of the individual shows 47 chromosomes instead of normal 46 (ii) Explain the cause that results in the gain of chromosome number. (iii) Mention the symptoms of any one the disorders an individual can suffer from