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Chromosome 15q11q13 is among the least stable regions in the genome due to its highly complex genomic architecture. Low copy repeat elements at 15q13.3 facilitate recurrent copy number variants (CNVs), with deletions established as pathogenic and "CHRNA7" implicated as a candidate gene. However, the pathogenicity of duplications of "CHRNA7" is unclear, as they are found in affected probands as well as in reportedly healthy parents and unaffected control individuals. We evaluated 18 children with microduplications involving "CHRNA7," identified by clinical chromosome microarray analysis (CMA). Comprehensive phenotyping revealed high prevalence of developmental delay/intellectual disability, autism spectrum disorder, and attention deficit/hyperactivity disorder. As "CHRNA7" duplications are the most common CNVs identified by clinical CMA, this study provides anticipatory guidance for those involved with care of affected individuals.

Chromosome 15q11q13 is among the least stable regions in the genome due to its highly complex genomic architecture. Low copy repeat elements at 15q13.3 facilitate recurrent copy number variants (CNVs), with deletions established as pathogenic and CHRNA7 implicated as a candidate gene. However, the pathogenicity of duplications of CHRNA7 is unclear, as they are found in affected probands as well as in reportedly healthy parents and unaffected control individuals. We evaluated 18 children with microduplications involving CHRNA7, identified by clinical chromosome microarray analysis (CMA). Comprehensive phenotyping revealed high prevalence of developmental delay/intellectual disability, autism spectrum disorder, and attention deficit/hyperactivity disorder. As CHRNA7 duplications are the most common CNVs identified by clinical CMA, this study provides anticipatory guidance for those involved with care of affected individuals., Author(s): M. A. Gillentine [sup.1] [sup.2] , L. N. Berry [sup.3] [sup.4] , R. P. Goin-Kochel [sup.3] [sup.4] , M. A. Ali [sup.1] [sup.2] , J. Ge [sup.1] , D. [...]

Author(s): M. A. Gillentine [sup.1] [sup.2] , L. N. Berry [sup.3] [sup.4] , R. P. Goin-Kochel [sup.3] [sup.4] , M. A. Ali [sup.1] [sup.2] , J. Ge [sup.1] , D. [...]

The authors describe a partnership between nurses and physicians in a unique collaborative to improve quality of care and reduce vascular complications after PCIs through aggressive collection of data and timely sharing of risk-adjusted data. [ABSTRACT FROM AUTHOR]

Dear Editor, A 75-year-old female patient with a 20-year history of presumed cutaneous and mucosal lichen planus (LP) and a 4-year history of bilateral conductive hearing loss presented with acute bilateral otalgia, otorrhoea and (a) violaceous flat-topped papules on the lower extremities. This is the first reported case of otic LP complicated by TM perforation.[1] At the 2-month follow-up, her aural symptoms improved and TM perforations completely resolved with compounded topical 1% tacrolimus in mineral oil. [Extracted from the article]