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प्रश्न
Mention the symptoms of Phenylketonuria.
उत्तर
Severe mental retardation, light pigmentation of skin and hair. Phenylpyruvic acid is excreted in the urine.
संबंधित प्रश्न
Identify 'a', 'b', 'c',’d’, 'e' and 'f' in the table given below:
| No. | Syndrome | Cause | Characteristics of affected individuals | Sex Male/Female/Both |
| 1. | Down's | Trisomy of 21 | 'a' (i) (ii) |
'b' |
| 2. | 'c' | XXY | Overall masculine development. |
'd' |
| 3. | Turner's | 45 with XO | 'e' (i) (ii) |
'f' |
In which of the following disorders number of chromosomes present is 47?
(A) Turner’s syndrome
(B) Cushing’s syndrome
(C) Acquired Immuno - Deficiency Syndrome
(D) Down’s syndrome
During a medical investigation, an infant was found to possess an extra chromosome-21. Describe the symptoms the child is likely to develop later in the life.
What do sex linked traits appear in males than in females?
Match the column-I with column-II and re-write the matching pairs.
| Column-I | Column-II |
| 1. 21 trisomy | a. Turner’s syndrome |
| 2. X-monosomy | b. Klinefelter’s syndrome |
| 3. Holandric traits | c. Down's syndrome |
| 4. Feminized male | d. Hypertrichosis |
Match the Column I and Column II and select the correct option.
| List-I | List-II | ||
| i. | Holandric genes | a. | Pleiotropy |
| ii. | Multiple effects of a single gene | b. | Hypertrichosis |
| iii. | Skin colour in man | c. | Multiple Alleles |
| iv. | ABO Blood types | d. | Polygenic inheritance |
The correct answer is
Which of the following characteristics are observed in a person suffering from Turner syndrome?
In Klinefelter syndrome, an extra chromosome is a result of non-disjunction of X-chromosome during ____________.
A short stature with webbing of neck and low posterior hairline indicates ______ syndrome.
A woman with albinic father marries an albinic man. The proportion of her progeny is ______.
Extra chromosome ‘X’ is present in which one of the following cases?
Mental retardation in man associated with sex chromosomal abnormality is usually due to ______.
If both parents are carriers for thalassaemia, which is an autosomal recessive disorder, what are the chances of pregnancy resulting in an affected child?
Select the disease which is caused by recessive autosomal genes when present in homozygous conditions.
This abnormality occurs due to monosomy (2n - 1); the individual has 2n = 45 chromosomes with 44 + XO genotype.
Placed below is a karyotype of a human being.
On the basis of this karyotype, which of the following conclusions can be drawn: ______
Read the following and answer from given below:
Turner's syndrome is an example of monosomy. It is formed by the union of an allosome-free egg and a normal 'X' containing sperm or a normal egg and an allosome-free sperm. The individual has 2n = 45 chromosomes (44 + X0) instead of 46. Such individuals are sterile females who have rudimentary ovaries, underdeveloped breasts, small uterus, short stature, webbed neck, and abnormal intelligence. They may not menstruate or ovulate. This disorder can be treated by giving female sex hormones to women from the age of puberty to make them develop breasts and have menstruation. This makes them feel more normal.
The number of Barr bodies present in a female with Turner's syndrome is ______
What are chromosomal disorders?
Jacob is genetically a carrier of the disorder that affects the shape of the RBCs, as shown in the diagram below. His son James suffers from the same disorder.
- Give the biochemical reason for the disorder that changes the shape of the RBCs, as shown above.
- Draw a Punnett square to show the genotype of the mother of James.
- Name and define the type of 'point mutation' responsible for this disorder.
