# Nonrecurrent 17p duplications in two patients with developmental and neurological abnormalities

## TL;DR

This paper reports two new cases where duplications in chromosome 17p are linked to developmental and neurological issues, suggesting these duplications should be considered in similar patient diagnoses.

## Contribution

The study identifies novel nonrecurrent 17p duplications in two patients with developmental and neurological abnormalities.

## Key findings

- Two patients had duplications at 17p11.2–p13.1 and 17p11.2–p13.3, containing genes like PMP22 and RAI1.
- The duplications were likely de novo mutations from the father.
- CNVs at 17p should be considered in patients with peripheral neuropathy and brain abnormalities.

## Abstract

Variable copy number variations (CNVs) in the short arm of chromosome 17 are associated with many neurodevelopmental disorders, including Charcot–Marie–Tooth disease type 1A, Potocki–Lupski syndrome and Yuan–Harel–Lupski syndrome. Here we examined CNVs in two sporadic cases of developmental abnormalities, brain impairment and peripheral neuropathy. We identified novel duplications of approximately 14.1 Mb at 17p11.2–p13.1 (containing PMP22 and RAI1) and 17.6 Mb at 17p11.2–p13.3 (YWHAE, PAFAH1B and PMP22) in each patient. Both duplications were suggested to be produced by de novo mutations of paternal origin. This study suggests that CNVs at 17p should be examined in patients with peripheral neuropathy as well as developmental and brain abnormalities.