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CHROMOSOMAL MUTATIONAL DISORDER
Autosomal Aneuploidy : (Change in no.)

1. Down's Syndrome : (Mongolism or Mangolion Idiocy) 21 trisomy. This disorder was first reported by Langdon down. It is first chromosomal mutational disorder to be discovered. It is the most common cause of trisomy & mental retardation in children.
Its frequency or incidence is 1 in 700 children. This abnormality or disorder is formed mostly by fusion of normal sperm with an abnormal egg. This abnormal egg contains the extra chromosome on 21st position.

Women around the age of 45 are more likely to produce the children having down syndrome.  This disorder is due to chromosomal non-disjunction.

Symptoms : Short stature, rounded face, extra folds in eye lids (epicanthus), broad fore head, retracted tongue and lower lips, flattened nasal bridge, open mouth, short neck, flat hands, stubby fingers, undeveloped genital & gonads, mental retardation (IQ = 25–50),. Amniocentesis is done to detect this syndrome in embryonic stage.

2. Edward's syndrome (trisomy 18) (Incidence 1 in 8000 birth) This disorder characterizes defective formation of ears and nervous system. They are mentally retarded, have small eyes – micropthalmia, micrognatha (small jaw).

3. Patauo's syndrome (trisomy 13) (Incidence 1 in 15,000 birth) Cleft plate, polydactyly, small hands, tiny eyes,  mentally retarded.

4. Cat cry syndrome (Cri-du-cat) This disorder is due to partial deletion of short arm of chromosome

5.  Patients are mentally retarded and exhibit characteristics of a cat cry.

Sex chromosomal (Aneuploidy) 

1. Klinefelter's syndrome (44 + xxy) or (44 + xxxy) (Incidence 1 in 850 live male birth)

  •  A + XX + A + Y

  •  A + X + A + XY

This disorder occurs due to fusion of abnormal female gamete (A + XX) with normal sperm (A + Y) or normal egg (A + X) with abnormal sperm (A + XY).
So these patients have 47 chromosome (extra sex chromosome) instead of 46. (Trisomic disorder) Symptoms : These are sterile male, abnormal development of genitals and gonads, are mentally retarded and show female like characters like Gynecomastia (Female like breast), Barr body present. Most common cause of Hypogonadism in male.

2. Turner's Syndrome (44 + XO) (Incidence 1 in 3000 female birth)

  •  A + X × A  + O

  •  A + O × A + X

This syndrome is formed by fusion of normal egg with abnormal sperm or abnormal egg with normal sperm. So, patient have 45 chromosome. It is a monosomic disorder.

Symptoms : Sterile female, primary amenorrhoea, undeveloped ovaries (rudimentary ovary), small uterus, shielded chest, webbed neck, mentally retarded, short statured Mentally retarded. Most common cause of death is cardiovascular abnormality (coarctation of aorta– compression of the wall of vessel)

3. Jacob's Syndrome or super males or criminal syndrome (44 + XYY) (Incidence 1 in 1000 live born males) These patients have extra y chromosome. So there is a normal production of testosterone in these patients. These individual have abnormal height, aggressive behaviour, mentally retarded and criminal bent of mind.

4. Super females or Multi-x females (44 + xxx)  (Incidence 1 in 1200 females) Mental retardation is proportional to the No. of X–chromosomes, fertile female.

Disease

Chromosome number

Huntington Chorea

4th

Cri-du-chat syndrome

5th (short arm)

Cystis fibrosis

7th

Sickle cell anemia

11th

PKU

12th

 

Chromosomal Mutational Disorder & Chart of Diseases | Additional Study Material for NEET

 

Disease (s)

Pathogens

Symptoms

(A) Bacterial diseases

1.

Tuberculosis

Mycobacterium tuberculosis

Mode of injection - Ercplet injection

chronic cough, fever, weakness, bloody sputum, breathlessness treatment - DOTS (Direct observation treatment short course) Investigation - Mfentoux test

2.

Diphtheria

Corynebacterium

diphtheriae

High grade fever, difficulty in breathing (Investigation - Schick test)

3.

Whooping cough (Batussis)

(100 days cough)

Bordetella pertussis

Persistent large bouts of cough.

4.

Cholera

Vibrio cholerae

Diarrhoea, dehydration, vomiting

5.

Pneumonia

Streptococcus pneumoniae (Earlier Eiploooccus pneumoniae) also caused by Haemophileus influenzae) Droplet (Aerosols) infection

Infeticnin lungs, difficulty in breathing, high fever, chill, cough, headache In severe cases lips and finger: nails may turn gray to bluish in colour.

6.

Tetanus (Lock jaw)

Hostriciim tetani

Sustained contraction of body muscles, spasms, lock jaw, unconsciousness, opisthotonus Risus Sardonicus - Stretching of facial muscles

7.

leprosy or Hanson' s disease

Mycobacterium leprae

Patches on skin, ulcer and nodules formation in skin and nerves, deformities, ulceration and wasting of fingers and toes (Treatment- Multi drug therapy)

8.

Typhoid fever

Salmonella typhi (Enters through contaminated foods and water)

Stomach pain, constipation, headache, Sustain high Fever (39° to 40° C), loss of appetite, intestinal, ulcers, bradycardia and perforation, intestinal, Weakness, Detect by widal test

9.   Plague (Hack death)

Yersinia pestis

(Earlier name-Pasteurella pestis)

High fever, headache, enlargement of auxiliary lymph nodes unconsciousness

(B) Viral diseases 

1.

Polio or poliomyelitis

Polio virus (Group-Picclrna virus)

Fever, headache, paralysis

2.

Influenza

Orthomyxovirus

Sudden fever after headache, nasal discharge

3.

Measles

Paramyxovirus

High grade fever, white-brown patches on body and blisters

4.

Chicken pox

Pox virus (Varicella-herpes virus)

Rashes on body with fever (Dew drop like appearance rashes)

5.   Mumps

Para myxovirus

Painful swelling in parotid gland

6. Dengue fever or Break bone fever

(Arbovirus (fLavi)) Vector-Aedes agypti

Fever, pain in muscles and joints hemorrhagic condition in body (Tornicuec test)

7.   Chikun-gunya

Togavirus (flavi) Vector-Atedes agypti

Eriec, joint pain, arthritis.

8.   Rabies (hydrophobia)

Rabdo virus or street virus (Vector-rabbit, dog, cat and wild animals)

Affect CNS - Madness, hydrophobia due to laryngeal spasm and 100% death occur.

For prevention - Human diploid cell culture vaccine.

9.   Common cold

Rhinovirus(Droplet infection)

Infects nose and upper respiratory tract but not the lungs. Nasal congestion and discharge, sore throat, hoarseness, cough, headache, tiredness.

10. SARS (Severe Acute Respiratory Syndrome)

Corona virus (Droplet infection)

Pneumonia like symptoms.

11.  Swine flu

H1N1 virus (Droplet infection)

Pneumonia like symptoms.

Treatment - Temiflu

(C Protozoan diseases)

1.  Malaria

Plasmodium sps.

High fever with chill of intermittent periodicity, pain in joints

2.   Amoebiasis (Anoeboic dysentery)

Ehtanoeba histolytica

Intestinal spasms, dysentery, stool with excess mucous + blood cells, constipation, abdominal pain

3.   Diarrhoea

Giardia intestinalis

Vomiting, loose motions

4.   African sleeping sickness

Trypanosoma gambiens

Patient feels sleepy, nervous system impairment

5. Kala azar

Leishmania donovani

High fever associated with enlargement of spleen and liver

(D) Helminth diseases

1. Ascariasis

Ascaris lumbricoides
(Common round worm)

Abdominal spasm, insomnia, vomiting, loose motions, restlessness Internal bleeding, fever, anaemia, blockage of the intestinal passage.

2. Dracunculiasis

Dracunculus medinensis

Blisters on skin of arms, shoulders and legs

3. Elephantiasis or Hlariaas

Wuchereria bancrofti.:mAlayi (Filarial worn) it causes slowly developing chronic inflammation of lymphatic vessels. Vector is female CHex.

Swelling of hands, scrotum, testis (genital organ are often affected) and breasts

 

 

Hepatitis types
(A, B, C, D, E affect list) Hepatitis A
(epidemic jaundice or infetrios hepatitis)
(Most common cause of Jaundice)

HIV (Entero virus type-72) - SS RNA 2 - 6 weeks Chromosomal Mutational Disorder & Chart of Diseases | Additional Study Material for NEET

Contaminated food and water through foecooral route or intestinal route.

Common Symptoms

Fever, vomiting,

Hepatomegaly jaundice (increase) billirubin in blood due to liver infection. liver cbes not change billirubin. This bilirubin accumulates in various body parts so body become yellowish and also secrete bill inbin in urine.

Dark urine, whitish stool

Investigation- Serum SGPT (Serum glutamic pyruvic transminase test 5 - 40 I.U.

ELISA test

Detects Australian Ag

Prophylaxis -

Hepatitis B Vaccine (0,1,6 months)

Engerix - B

Shenvac - B

Enivac - B

T/t→Bed rest less protein, fat & more carbohydrate diet  γ-globulin, interferon as requirement

Hepatitis B
Serum hepatitis
(STD)

HBV - Double stranded circular

DNA size = 42 nm

2 to 6 months

Outer protein coat (Surface envelop)

Chromosomal Mutational Disorder & Chart of Diseases | Additional Study Material for NEET 

Sexual contact, blood contact, mother to child by placenta called vertical transmis­sion (liver.)

(More infectious than AIDS)

Hepatitis - C
(Non-A, Non-B )Hepatitis

HCV SS R.N.A.

By Blood

Transfusion (90%)

Post Blood

transfusion H^vatitis)

Hepatitis - E

Similar to Hepatitis A

HEV (R.N.A)

Faeco oral route

Hepatitis - D cr Delta Hepatitis

Hepatitis B (Carrier state)
SS RNA

 

 

Chromosomal Mutational Disorder & Chart of Diseases | Additional Study Material for NEET

Chromosomal Mutational Disorder & Chart of Diseases | Additional Study Material for NEET

Chromosomal Mutational Disorder & Chart of Diseases | Additional Study Material for NEET

 

 

Some STDs, their Pathogens and Symptoms

Disease (s)

Pathogens

 Symptoms

(A) Bacterial

 

1. Syphilis or French pox (Incubation Bd) → Aprox 21 days

Treponema pallidum

Round elevated ulcers on genital organs Investigation - MRL test (Veneral disease research laboratory test)

2. Gonorrhoea
In Pd.→ 2 to 5 days

Neisseria gonorrhoeae

Infection of urethra in male, discharge of white thick fluid from urethra, pain during urination

In females- Infection in cervix, pain and burning during micturition

3. Vaginitis

Gandnerella vaginalis

Grayish-white discharge from vagina

4. Chancroid

Haemophilus ducreyi

Foul smelling discharge and ulcers

5. Chlamydiasis

Chlamydia trachomatis

Recurrent pain and inf ection in urinary tract

(B) Viral

1. Herpes gaitalis

HSV-2 (DNA) Virus and penis

In males-Painful rashes on prepuce, glans

In females-Rashes on vulva and upper part of vagina

2. Condyloma acuminatum

Bapova DNA Virus

Itching and fever

3. Molluscum contagiosum

Box DNA Virus

Bain

4. AIDS

Human Immuno­deficiency Virus (HIV)

Immune system failure, fever, diarrhoea etc.

(C) Protozoan

1. Trichomoniasis

Trichomonas vaginalis

Greenish-yellow vaginal discharge

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FAQs on Chromosomal Mutational Disorder & Chart of Diseases - Additional Study Material for NEET

1. What is a chromosomal mutational disorder?
Ans. A chromosomal mutational disorder is a genetic condition caused by abnormalities or changes in the structure or number of chromosomes. These mutations can result in various health problems and developmental issues.
2. What are some examples of chromosomal mutational disorders?
Ans. Some examples of chromosomal mutational disorders include Down syndrome, Turner syndrome, Klinefelter syndrome, and Cri du Chat syndrome. These conditions are caused by specific chromosomal abnormalities and can lead to a range of physical and cognitive symptoms.
3. How are chromosomal mutational disorders diagnosed?
Ans. Chromosomal mutational disorders are often diagnosed through genetic testing. This can involve analyzing a person's chromosomes using techniques such as karyotyping or fluorescent in situ hybridization (FISH). These tests can identify any abnormalities or changes in the chromosomes that may be causing the disorder.
4. Can chromosomal mutational disorders be treated?
Ans. While there is no cure for chromosomal mutational disorders, many of the associated symptoms and complications can be managed or treated. Treatment may involve a combination of medical interventions, therapies, and support services tailored to the specific needs of the individual. Early intervention and ongoing care can greatly improve the quality of life for individuals with these disorders.
5. Are chromosomal mutational disorders inherited?
Ans. Chromosomal mutational disorders can be inherited in some cases, while others occur sporadically without any known family history. Some disorders are caused by an error during the formation of eggs or sperm, while others may be inherited from one or both parents who carry certain chromosomal abnormalities. Genetic counseling can help individuals and families understand the risks of passing on these disorders and make informed decisions regarding family planning.
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