Genetics

Question 1

Waardenburg’s syndrome

Answer 1

AD
Abnormal distribution of melanocytes, which results in patchy areas of depigmentation, loss of pigmentary cells in eyes, skin, stria vascularis of the cochlea, and hair. A broad nasal root, lateral displacement of medial canthi with the dystopia of lacrimal puncta, pigmentary abnormalities of the iris, hypertrichosis of the medial part of the eyebrows, white forelock, and congenital unilateral or bilateral sensorineural hearing loss characterize it.

Question 2

Wiskott-Aldrich syndrome

Answer 2

X-linked recessive disorder that results in partial B and T cell deficiencies through a defective cytoskeletal glycoprotein, low levels of CD43 expression on lymphocytes.

Eczema, recurrent infections, and thrombocytopenia, B cell malignancies.
Decreased platelet count, increased IgE and IgA, and decreased IgM.