Chromosomal Mutational Disorder & Chart of Diseases | Additional Study Material for NEET PDF Download
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 |
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 | 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 | HIV (Entero virus type-72) - SS RNA 2 - 6 weeks | 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 | HBV - Double stranded circular DNA size = 42 nm 2 to 6 months Outer protein coat (Surface envelop)
| Sexual contact, blood contact, mother to child by placenta called vertical transmission (liver.) (More infectious than AIDS) | |
Hepatitis - C | 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) |
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 | 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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Nov 21, 2024 Last updated |
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