Genetic Disorders
Genetic Disorders: Overview
This topic covers concepts such as Genetic Disorders, Chromosomal Disorders, Pedigree Analysis, Mendelian Disorders, Thalassemia, Down's Syndrome, Klinefelter's Syndrome, Turner's Syndrome, Aneuploidy, Monosomy, Trisomy, Edwards Syndrome, etc.
Important Questions on Genetic Disorders

XO chromosomal abnormality in humans causes _____.





Edward's syndrome is an example of trisomy condition.


Klinefelter's syndrome is an example of which of the following condition?

Trisomy is a chromosomal aberration where one chromosome is deleted from an existing homologous pair.

Monosomy is a condition where one chromosome is lost from a pair.

Klinefelter's syndrome is an example of a monosomy condition.

Which of the following is an example of a monosomy condition?


Choose the correct the combination.
Group I | Group II | ||
P. | Phenylketonuria | i. | Melanin synthesis |
Q. | Albinism | ii. | Conversion of Phenylalanine to Tyrosine |
R. | Homocystinuria | iii. | Tyrosine degradation |
S. | Argininemia | iv. | Methionine metabolism |
v. | Urea synthesis |

Philadelphia chromosome results in the abnormal production of _____ (tryptophan kinase/tyrosine kinase).


Select the incorrect statement for chronic myelogenous leukemia (CML).

Select all that is correct for the symptoms of the Cat cry syndrome.

For Cri-du-chat syndrome, the karyotype is 45, XX, 5p'.
