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प्रश्न
State any two symptoms of Down’s syndrome.
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उत्तर
Symptoms of Down syndrome are as follows :
1) Most children showed typical facial features with a fold of skin (epicanthal skin fold) over the inner corner of the eye. This results in downward slanting of eyelids
2) The face is typically flat and rounded flat nose, mouth open and tongue protruding
3) Mental retardation
4) Due to poor skeletal development, they have short stature and relatively small skull, the palate is arched.
5) Flat hand with characteristic crease which runs all the way across the palm (simian crease).
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संबंधित प्रश्न
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.
Identify the genetic disorder m which an individual has an overall masculine development, gynaecomastia and is sterile.
Following list indicates various genetic diseases. Identify the diseases that are not caused due to single gene defect.
Huntington's chorea, alkaptonuria, Sickle cell anaemia, Down syndrome, thalassemia, Taysachs disease, Turner syndrome, cystic fibrosis, haemophi Lia, Klinefelter syndrome, albinism
Genes for cytoplasmic male sterility in plants are generally located in ______.
The person with Turner’s syndrome has ______.
Klinefelters’ syndrome is characterised by a karyotype of ______.
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.
Turner's syndrome is a/an ______
Lipoprotein lipase deficiency (LPLD)is a genetic disorder in which a person has a defective gene for lipase. This leads to high triglycerides, stomach pain, and fat deposits under the skin. It may eventually affect the liver, pancreas and may also cause diabetes. The disorder occurs if a child acquires defective genes from both parents (autosomal recessive). ERT (enzyme replacement treatment) is one of the treatments offered to patients with LPLD.
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- What procedure is followed in ERT?
- What could be one possible drawback of ERT?
- How can LPLD be treated using Biotechnology? Elaborate.
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.
