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A woman of 47 years delivered an abnorma...

A woman of 47 years delivered an abnormal child with flattened nasal bridge and mouth usually open with a large protruding tongue. Name this genetic abnormality. What causes this condition?

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### Step-by-Step Solution: 1. **Identify the Symptoms**: The child described has a flattened nasal bridge, an open mouth, and a large protruding tongue. These physical characteristics are indicative of a specific genetic disorder. 2. **Name the Genetic Abnormality**: Based on the symptoms provided, the genetic abnormality can be identified as **Down Syndrome**. This condition is also known as **Trisomy 21**, as it involves an extra copy of chromosome 21. 3. **Understand the Cause**: Down Syndrome is caused by a genetic error known as **nondisjunction**. This occurs during cell division, specifically during the anaphase stage of meiosis, where the sister chromatids fail to separate properly. As a result, one gamete may end up with an extra chromosome. ...
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The cause of chromosomal disorders is absence or excess of abnormal arrangement of one of more chromosomes. Analysis of karyotypes is used to study the chromosomal disorders. l(aryotype is defined as the profile of an individual's chromosomes that are arranged according to their shape, size and number. Case - Sarika encountered a teenager with short stature and a small round head, furrowed tongue and partially open mouth The palm of the person is broad with characteristic palm crease. She has a doubt that the individual might be suffering from a Chromosomal disorder. On the basis of your reading, answer the following questions: Name the syndrome from which the given individual might be suffering. Describe it along with its symptoms.

Sickle cell anemia is a genetic disorder where the body produces an abnormal hemoglobin called hemoglobin S. Red blood cells are normally flexible and round, but when the hemoglobin is defective, blood cells take on a “sickle” or crescent shape. Sickle cell anemia is caused by mutations in a gene called HBB. It is an inherited blood disorder that occurs if both the maternal and paternal copies of the HBB gene are defective. In other words, if an individual receives just one copy of the defective HBB gene, either from mother or father, then the individual has no sickle cell anemia but has what is called “sickle cell trait”. People with sickle cell trait usually do not have any symptoms or problems but they can pass the mutated gene onto their children. There are three inheritance scenarios that can lead to a child having sickle cell anemia: - Both parents have sickle cell trait - One parent has sickle cell anemia and the other has sickle cell trait - Both parents have sickle cell anemia The following statements are drawn as conclusions from the above data (Kenya). I. Patients with SCD (Sickle Cell Disease) are less likely to be infected with malaria. II. Patients with SCD (Sickle Cell Disease) are more likely to be infected with malaria. III. Over the years the percentage of people infected with malaria has been decreasing. IV. Year 2000 saw the largest percentage difference between malaria patients with and without SCD. Choose from below the correct alternative.

Read the following passages carefully and answer the questions that follow. When I learned that my 71 year old mother was playing scrabble against herself, I knew I had to do something "Who is playing?" I asked one day when I saw a half finished game on the table. "My right hand versus my left”. "Excuse me” I said, “ Well your father doesn't play and I want to keep my mind sharp." An admirable pursuit, but I questioned whether my mother's solitary version of scrabble would achieve that goal. My husband suggested we give her a computer to play against. I wasn't sure my mother was ready for a cyber scrabble it had taken 15 years to persuade her to buy a microwave. Nevertheless we packed up our old PC, complete with scrabble and word-processing programmes and delivered it to my parent's home. And so began my mother's adventure in the world of computers. It also marked the beginning of an unusual teaching assignment for me. I've taught children and adults of all ages, but never thought I would be teaching my mother to do anything, Despite the look of horror on her face when she first saw our gift, my mother was cager to get started. She sat mesmerised on the screen lit up and the various icons presented themselves. Slowly, but surely my mother caught on, making notes in a little spiral book. I wondered how she'd fair without me. But thereafter, she only spoke on her game on the computer to me. She even forgot to ask her stock question, "What did you have for supper?" It was no longer on the agenda. Instead she talked about RAM, ROM and CPU terms spilled out effortlessly from her mouth. My mother had acquired a new mother tongue. After a lifetime of being her child, I was finally the one with knowledge to share with my mum. But even now, I realise she continues to teach me. I'm learning that no matter how old you are, a willing spirit is capable of anything. What changes were seen in mother?

Read the following passages carefully and answer the questions that follow. When I learned that my 71 year old mother was playing scrabble against herself, I knew I had to do something "Who is playing?" I asked one day when I saw a half finished game on the table. "My right hand versus my left”. "Excuse me” I said, “ Well your father doesn't play and I want to keep my mind sharp." An admirable pursuit, but I questioned whether my mother's solitary version of scrabble would achieve that goal. My husband suggested we give her a computer to play against. I wasn't sure my mother was ready for a cyber scrabble it had taken 15 years to persuade her to buy a microwave. Nevertheless we packed up our old PC, complete with scrabble and word-processing programmes and delivered it to my parent's home. And so began my mother's adventure in the world of computers. It also marked the beginning of an unusual teaching assignment for me. I've taught children and adults of all ages, but never thought I would be teaching my mother to do anything, Despite the look of horror on her face when she first saw our gift, my mother was cager to get started. She sat mesmerised on the screen lit up and the various icons presented themselves. Slowly, but surely my mother caught on, making notes in a little spiral book. I wondered how she'd fair without me. But thereafter, she only spoke on her game on the computer to me. She even forgot to ask her stock question, "What did you have for supper?" It was no longer on the agenda. Instead she talked about RAM, ROM and CPU terms spilled out effortlessly from her mouth. My mother had acquired a new mother tongue. After a lifetime of being her child, I was finally the one with knowledge to share with my mum. But even now, I realise she continues to teach me. I'm learning that no matter how old you are, a willing spirit is capable of anything. What did the author learn from her mother?

CENGAGE BIOLOGY-CHROMOSOMAL THEORY OF INHERITANCE AND GENETIC DISORDERS-MANDATORY EXERCISE
  1. Mention the salient features of chromosomal theory of inheritance.

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  2. Sex of the offspring is determined by (A) only the mother, because s...

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  3. Down's syndrome is an example of (A) incomplete dominance (B) gene...

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  4. What are the main conventional symbols and signs used in genetic famil...

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  5. The genetic disorders can be grouped under two broad categories - sex-...

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  6. The egg of an animal contains 10 chromosomes, of which one is X chromo...

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  7. How is the child affected if it has grown from the zygote formed by an...

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  8. A woman of 47 years delivered an abnormal child with flattened nasal b...

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  9. In humans the sex of the child is determined by the father and not by ...

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  10. Pattern baldness is sex-linked, but cannot be expressed normally in fe...

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  11. Action of ultraviolet rays on DNA is (A) induction of thymidine dime...

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  12. A women with normal vision, but whose father was colour blind, marries...

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  13. Haemophilia is a condition, where there is (A) no production of haem...

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  14. A woman who has haemophilia marries a normal man. How many of their ch...

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  15. Identify each of the alterations of chromosome structure.

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  16. How does sickle cell anemia affect the red blood cells?

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  17. If mother and father are both sickle cell carriers, what are the chanc...

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