B2M3C1

One or two base pairs may be inserted into or deleted from from the DNA, leading to aIterations in the reading frame of the DNA strand

An autosomal dominant disorder

• Huntington's Disease

• Cystic fibrosis

• Phenylketonuria

• Sickle cell anemia

A child with very white skin, ash blond hair and gray eyes is born to dark-skinned parents. You explain to the parents that the child has a defect in the gene affecting a copper-containing enzyme that catalyzes the production of melanin. This classification of the child’s disease stems from defects in which chromosome?

• 11q

• 15q

• Xq

A child with very white skin, ash blond hair and gray eyes is born to dark-skinned parents. On continuous follow-up, the child was noted to be persistently depigmented. What is the child’s most likely diagnosis?

• Oculocutaneous (Generalized) albinism (OCA) 1

• Oculocutaneous (Generalized) albinism (OCA) 2

• Hermansky-Pudlak Syndrome

Angela’s baby was born with very white skin, ash blond hair and gray eyes despite Angela and her husband Lucian being dark-skinned. What should Angela and Lucian expect as part of long-term care for their child?

• Use sunscreen

• Prone to develop recurrent infections

• Special education