D. Chromosome 17 – Explanation
One of our registered users sent the following mnemonic to us:
- NF1: chromosome 17 – as neurofibromatosis has 17 characters
- NF2: chromosome 22 – all the 2’s
Neurofibromatosis
There are two types of neurofibromatosis, NF1 and NF2. Both are inherited in an autosomal
dominant fashion
NF1 is also known as von Recklinghausen’s syndrome. It is caused by a gene mutation on
chromosome 17 which encodes neurofibromin and affects around 1 in 4,000
NF2 is caused by gene mutation on chromosome 22 and affects around 1 in 100,000
Features
| NF1 | NF2 |
| Café-au-lait spots (>= 6, 15 mm in diameter) Axillary/groin freckles Peripheral neurofibromas Iris: Lisch nodules in > 90% Scoliosis |
Bilateral acoustic neuromas |
