Mendelian Disorder in Human
Mendelian Disorder in Human: Overview
This topic covers concepts such as Pedigree Analysis, Mendelian Disorders, Down’s Syndrome, Klinefelter’s Syndrome, Turner’s Syndrome, Autosomal Dominant Disorders, and Autosomal Recessive Disorders.
Important Questions on Mendelian Disorder in Human
The trait can be described as:
XO chromosomal abnormality in humans causes _____.
Alzheimer's disease is an example of autosomal recessive disorder.
Which of the following is an autosomal dominant disorder?
A disease which is inherited as an autosomal dominant condition?
Which is an autosomal chromosomal mutational disorder?
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 |
A human female with Turner’s syndrome exhibits male characters.
Which of the following statement is/are correct for Turner’s syndrome ?
Due to non-disjunction of chromosomes during spermatogenesis, sperms carry both sex chromo-somes (22 A + XY) and some sperms do not carry any sex chromosome (22 A + O). If these sperms fertilise normal eggs (22 A + X), what type of genetic disorders appear among the offspring ?
The X/O syndrome is called Turner’s syndrome.
How many chromosomes may be present in Klinefelter syndrome?
Name the chromosomal disorder which is caused by the presence of an additional copy of the chromosome number 21.
Fill in the blank with the correct option provided in the bracket.
Turner's syndrome arises due to non-disjunction during_____ cell division of either male or female. (meiosis/mitotic)
Persons with Turner's syndrome have 45 chromosomes with only one sex chromosome (X).
Fill in the blank with the correct word given in the bracket.
_____ (Klinefelter/Down) syndrome is a chromosomal variation in males in which one extra X chromosome is present.
Down syndrome is the result of monoploidy.
Study the following statements
I) Karyotype of Klinefelter's syndrome is
II) Turner's syndrome is an example for trisomy
III) chromosome is the karyotype of Down's syndrome
IV) Individual with Klinefelter's syndrome is Barr body positive
Among the above, correct statements are
Down's syndrome is a genetic condition that causes delays in physical and intellectual development. The cause of this genetic disorder is.
Match the following
| List - I | List - II | ||
| a | Down syndrome | i | Trisomy of chromosome |
| b | Edwards syndrome | ii | Partial delection of short arm of chromosome |
| c | Patau syndrome | iii | Trisomy of chromosome |
| d | Cri-du-chat syndrome | iv | Trisomy of chromosome |
