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Pediatrics Genetic and genetic disorders 8bc8267b

Which amongst the following is X-linked Recessive Disorder?

A
Duchenne muscular dystrophy
B
Achondroplasia
C
Marfan's syndrome
D
Sickle cell disease
High-Yield Explanation
Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness. It is one of nine types of muscular dystrophy. Duchene muscular dystrophy is a X linked recessive disorder most commonly seen in men , females act as carriers having one normal gene and other dystrophin gene. Examples of Autosomal recessive conditions Sickle Cell disease Cystic fibrosis Batten Disease Congenital deafness Phenylketonuria (PKU) Spinal muscular atrophy Recessive blindness Maple syrup urine disease Examples of Autosomal Dominant Condition Huntington disease Neurofibromatosis type 1 Marfan syndrome Familial hypercholesterolemia Familial Adenomatous Polyposis (FAP) Prader-willi Reference: GHAI Essential pediatrics, 8th edition

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