Familial transmission of 5p13.2 duplication due to maternal der(X)ins(X;5).

Submicroscopic duplications of 5p13 have been recently reported in several cases, warranting the description of a new clinical entity (Chromosome 5p13 Duplication Syndrome; MIM 613174). These microduplications, while variable in size, all contain at least part of the NIPBL gene. Patients with duplications in this region present with intellectual disability/developmental delay (ID/DD) and dysmorphic facies.

Common mutation causes cystinosis in the majority of black South African patients.

Background: The mutations responsible for cystinosis in South African patients are currently unknown. A pertinent question is whether they are similar to those described elsewhere in the world.

Methods: Children who were being managed for cystinosis in the Western Cape Province of South Africa between 2002 and 2013 were studied.