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Inheritance pattern

Pathology
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Inheritance patterns describe how genetic traits or disorders are passed from one generation to the next. Here are some common patterns:


1. X-linked dominant inheritance (XD)

2. X-linked recessive inheritance (XR)

3. Autosomal dominant inheritance (AD)

4. Autosomal recessive inheritance (AR)

5. Mitrochondrial inheritance


X-linked dominant inheritance:

1. Alport syndrome (Type lV collagen defect)

2. Charcot marie tooth disease 

3. Fragile X syndrome 

4. Retts syndrome 

5. Vitamin D resistant rickets (Hypophatemic rickets)

6. Incontinentia pigmenti



X-linked recessive inheritance:

(Mnemonic- 

A gamma haem color monkey was hunt far GOLD)

1. Agamma globulin emia 

2. Haemophilia A and B

3. Color blindness

4. Menkes disease 

5. WAS (Wiskott Aldrich Syndrome)

6. Hunter syndrome 

7. Fabry disease 

8. G-6-PD deficiency (Pentose phosphate pathway)

9. OTC deficiency (Urea cycle)

10. Lesch nyhan syndrome 

11. Lowe syndrome 

12. Duchenne muscular dystrophy (DMD)

13. Diabetes insipidus (DI)



Autosomal dominant inheritance:

(Mnemonic- Vo Mango hai tasty)

Von Willebrand disease (VWD)

Marfan syndrome 

Myotonic dystrophy

Achondroplasia 

Noonan syndrome 

Neurofibromatosis (NF)

Osteogenesis imperfecta (Blue sclera)

Hereditary spherocytosis

Huntington’s chorea / disease

Tuberous sclerosis (Shagreen patch)


Autosomal recessive inheritance:

Phenylalanine metabolism disorder-

1. PKU (phenylketonuria)

2. Tyrosinemia 

3. Alkaptonuria 

4. Albinism 

Obstructive lung disease (OLD)- 

1. Emphysema 

2. Cystic fibrosis 

Haemoglobinopathies- 

1. Sickle cell anemia, SCA (Qualitative)

2. Thalassemia (Quantitative)

Kidney syndrome- 

1. Bartter syndrome 

2. Gitelman syndrome 

Lysosomal storage disease- 

1. Tay-Sachs disease

2. Gaucher’s disease

Tri nucleotide repeat mutation- 

1. Friedreich ataxia (GAA repeat)

Hemochromatosis 



Mitochondria inheritance- 

(Mnemonic- Alphabet: KLLMNOP)

KSS (Kearns-Sayre syndrome)

Leigh disease (Subacute Necrotizing Encephalomyelopathy)

LHON (Leber's Hereditary Optic Neuropathy)

MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes)

NARP (Neurogenic muscle weakness, Ataxia, and Retinitis Pigmentosa)

Opthalmoolegia - CPEO (Chronic Progressive External Ophthalmoplegia)

Pearson syndrome