Inherited 2q23.1 microdeletions involving the MBD5 locus

ConclusionsInherited forms of MBD5 deletions are rare, but do occur, especially in a mosaic form. The phenotypic spectrum of MAND may be wider than previously thought.

This report describes three families with inherited 2q23.1 microdeletions including a parent who has the deletion in an apparently nonmosaic form and has mental health issues in the absence of developmental delay or dysmorphic features. We also report two instances of parental mosaicism, which could be significant for counseling parents of an affected child with an apparent de novo deletion.

Source: Molecular Genetics & Genomic Medicine - July 1, 2017 Category: Genetics & Stem Cells Authors: Shereen Tadros, Rubin Wang, Jonathan J. Waters, Christine Waterman, Amanda L. Collins, Morag N. Collinson, Joo W. Ahn, Dragana Josifova, Ravi Chetan, Ajith Kumar Tags: Clinical Report Source Type: research