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प्रश्न
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.
During a medical investigation, an infant was found to possess an extra chromosome 21. Tell the symptoms of the child is likely to develop in the life.
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उत्तर
An additional copy of chromosome number 21 (trisomy of 21) leads to Down’s syndrome. The affected individual will have:
- short statured with small round head
- furrowed tongue
- partially open mouth
- broad palm with characteristic palm crease
- retarded physical, psychomotor and mental development
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संबंधित प्रश्न
Identify ‘a’, ‘b’, ‘c’, ‘d’, ‘e’ and ‘f’ in the table given below:
| S. No. | Syndrome | Cause | Characteristics of affected individuals | Sex (male/female/both) |
| 1. | Down’s | Trisomy of 21 |
‘a’ |
‘b’ |
| 2. | ‘c’ | XXY | Overall masculine development | ‘d’ |
| 3. | Turner’s | 45 with XO |
‘e’ |
‘f’ |
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 |
Give reasons for the development of Turner’s syndrome and also mention its symptoms.
In sickle cell anaemia glutamic acid is replaced by valine. Which one of the following triplets codes for valine?
Extra chromosome ‘X’ is present in which one of the following cases?
Rajesh and Mahesh have defective haemoglobin due to genetic disorders. Rajesh has too few globin molecules while Mahesh has incorrectly functioning globin molecules. Identify the disorder they are suffering from.
| Rajesh | Mahesh | |
| A. | Sickle cell anaemia - an autosome linked recessive trait | Thalassemia - an autosome linked dominant trait |
| B. | Thalassemia - an autosome linked recessive blood disorder | Sickle cell anaemia - an autosome linked recessive trait |
| C. | Sickle cell anemia - an autosome linked recessive trait | Thalassemia - an autosome linked recessive blood disorder |
| D. | Thalassemia - an autosome linked recessive blood disorder | Sickle cell anaemia - an autosome linked dominant trait |
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 ______
Identify chromosomal disorder caused due to non-disjunction of the 21st number of chromosomes and enlist its symptoms.
Fused ear lobes appear in the progeny due to an autosomal recessive gene. Work out the genotypes of number in the given pedigree.
What are chromosomal disorders?
