Multiple choice

The doctor told a couple that their new born baby is suffering from a metabolic disorder caused by a mutation in the DHCR7 gene on chromosome 11. Which of the following disorders could the doctor be referring to?

  1. Smith-Lemli-Opitz syndrome

  2. Severe Combined Immunodeficiency

  3. Sickle cell anaemia

  4. Neurofibromatosis type 1

  5. Phenylketonuria

Reveal answer Fill a bubble to check yourself
A Correct answer
Explanation

SLOS Chromosome SLOS is a metabolic disorder caused by a mutation in the DHCR7 (7-dehydrocholesterol reductase) gene on chromosome 11. This gene codes for an enzyme that is involved in the production of cholesterol. People who have SLOS are unable to produce enough cholesterol to support normal growth and development.