STUDY MATERIALS-XI

PLUS ONE

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 Chapter 2

Hereditary Disorders  -

Most common disorders

• P – Point mutation, or any insertion/deletion entirely inside one gene
• D – Deletion of a gene or genes
• C – Whole chromosome extra, missing, or both (see Chromosome abnormality)
• T – Trinucleotide repeat disorders: gene is extended in length

Disorder	Mutation	Chromosome
22q11.2 deletion syndrome	D	22q
Angelman syndrome	DCP	15
Canavan disease		17p
Charcot–Marie–Tooth disease
Color blindness	P	X
Cri du chat	D	5
Cystic fibrosis	P	7q
Down syndrome	C	21
Duchenne muscular dystrophy	D	Xp
Haemochromatosis	P	6
Haemophilia	P	X
Klinefelter syndrome	C	X
Neurofibromatosis		17q/22q/?
Phenylketonuria	P	12q
Polycystic kidney disease	P	16 (PKD1) or 4 (PKD2)
Prader–Willi syndrome	DC	15
Sickle-cell disease	P	11p
Tay–Sachs disease	P	15
Turner syndrome	C	X

 

Muscular dystrophy

Muscular dystrophy (MD) is a group of muscle diseases that weaken the musculoskeletal system and hamper locomotion.^[1][2] Muscular dystrophies are characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissue.^[3]

   

Down syndrome

Down syndrome (DS or DNS) or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21.^[1] It is typically associated with physical growth delays, characteristic facial features, and mild to moderate intellectual disability.^[2] The average IQ of a young adult with Down syndrome is 50, equivalent to the mental age of an 8- or 9-year-old child, but this varies widely.

     

GOUT

The crystallization of uric acid, often related to relatively high levels in the blood, is the underlying cause of gout. This can occur for a number of reasons, including diet, genetic predisposition, or underexcretion of urate, the salts of uric acid.^[4] Underexcretion of uric acid by the kidney is the primary cause of hyperuricemia in about 90% of cases, while overproduction is the cause in less than 10%.^[8] About 10% of people with hyperuricemia develop gout at some point in their lifetimes.^[9]

Sickle-cell disease

Sickle-cell disease (SCD), also known as sickle-cell anaemia (SCA) and drepanocytosis, is a hereditary blood disorder, characterized by an abnormality in the oxygen-carrying haemoglobin molecule in red blood cells. This leads to a propensity for the cells to assume an abnormal, rigid, sickle-like shape under certain circumstances. Sickle-cell disease is associated with a number of acute and chronic health problems, such as severe infections, attacks of severe pain ("sickle-cell crisis"), and stroke, and there is an increased risk of death.

 

Myopia

Myopia (Ancient Greek: μυωπία, muōpia, from myein "to shut (like a mole - mys/mus in Greek)" – ops (gen. opos) "eye, look, sight"^{[1][not in citation given]}), literally meaning "trying to see like a mole" (mys/mus), commonly known as near-sightedness (American English) and short-sightedness (British English), is a condition of the eye where the light that comes in does not directly focus on the retina but in front of it, causing the image that one sees when looking at a distant object to be out of focus, but in focus when looking at a close objec

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Sample Term end Questions

1

Differentiate between heredity and environment

2.

Prepare a table on stages of post natal period and its characteristics

3.

Find the odd one out. Give reason for the answer.

Gout, Sickle cell anaemia, Haemophilia, Scurvy

4.

Evaluate the role of following factors on growth and development

a)Sex

b)Position in the family

c)Maturation and learning

5.Write the corresponding principles of growth and development for the

following instances.

a)Child catches a ball first with both his arms, then with palms and

later with his fingers.

b)A child can hold his head erect only after the neck muscles are

strong enough for this.

c)Children of tall parents are generally tall.

d)Physical development is rapid during infancy and adolescent

period but slows down during childhood period.

6.Children grow and develop according to certain principles. Explain any

six principles with examples

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