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Pathology Mendelian Disorders: Single-Gene Defects acdce60e

Which of the following is XLR?

A
Cystic fibrosis
B
Haemophilia
C
Hereditary spherocytosis
D
Neurofibromatosis
High-Yield Explanation
Ans (b) HaemophiliaRef: Robbings pathology 9th ed. 1142X-LINKED RECESSIVE* X-linked recessive disorders are also caused by mutations in genes on the X chromosome.* Males are more frequently affected than females, and the chance of passing on the disorder differs between men and women.* Families with an X-linked recessive disorder often have affected males, but rarely affected females, in each generation.* A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons (no male-to- male transmission).Mnemonic for XLR disorders"Less HCG is Detected Clinically in A Fragile Woman"* Lesch-Nyhan syndrome* Hemophilia, Hunters* Chronic granulomatous disease* G6PD deficiency* Duchenne muscular dystrophy* Colorblindness* Agammaglobulnimea* Fragile X Syndrome* Wiskott-Aldrich syndrome

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