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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
What will be the phenotype of progeny, if a carrier haemophilic female marries a normal male?
(a) Why are thalassemia and haemophilia categorized as Mendelian disorders? Write the symptoms of these diseases. Explain their pattern of inheritance in humans.
(b) Write the genotypes of the normal parents producing a haemophilic son.
Give an example of an autosomal recessive trait in humans. Explain its pattern of inheritance with the help of a cross.
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.
Which of the following traits is never observed in a human female?
What do sex linked traits appear in males than in females?
In human beings 45 chromosomes/single X/XO abnormality causes ______.
Webbed neck is characteristic of ______ syndrome.
Give reasons for the development of Turner’s syndrome and also mention its symptoms.
Identify I and II in the given diagram of chromosome.
Identify the genetic disorder m which an individual has an overall masculine development, gynaecomastia and is sterile.
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.
Which of the following statements regarding Turner's syndrome is incorrect?
Clotting of blood is to ______.
The technique exployed in human genetic counselling is:
In Down's syndrome, karyotyping has shown that the disorder is associated with trisomy of chromosome number 21 usually due to ______.
Give the genotype of Klinefelter's syndrome.
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.
