%0 Journal Article
%T Delineating the Clinical Spectrum Associated With Xq25q26.2 Duplications: Report of 2 Families and Review of the Literature
%A Allen N. Lamb
%A Danielle LaGrave
%A Ellen M. Arch
%A Erin E. Baldwin
%A John C. Herriges
%A Pamela A. Burgio
%A Reha M. Toydemir
%J Journal of Child Neurology
%@ 1708-8283
%D 2019
%R 10.1177/0883073818811454
%X To date, 13 patients with interstitial microduplications involving Xq25q26.2 have been reported. Here, we report 6 additional patients from 2 families with duplications involving Xq25q26.2. Family I carries a 5.3-Mb duplication involving 26 genes. This duplication was identified in 3 patients and was associated with microcephaly, growth failure, developmental delay, and dysmorphic features. Family II carries an overlapping 791-kb duplication that involves 3 genes. This duplication was identified in 3 patients and was associated with learning disability and speech delay. The size and gene content of published overlapping Xq25q26.2 duplications vary, making it difficult to define a critical region or establish a genotype-phenotype correlation. However, patients with overlapping duplications have been found to share common clinical features including microcephaly, growth failure, intellectual disability, learning difficulties, and dysmorphic features. The 2 families presented here provide additional insight into the phenotypic spectrum and clinical significance of duplications in this region
%K Xq25q26 duplication
%K multiple congenital anomalies
%K growth failure
%K intellectual disability
%K genomic microarray analysis
%U https://journals.sagepub.com/doi/full/10.1177/0883073818811454