2022
DOI: 10.1101/2022.11.08.22282033
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The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review

Abstract: Background: Terminal 6p deletions are rare, and information on their clinical consequences is scarce, which impedes optimal management and follow-up by clinicians. The parent-driven Chromosome 6 Project collaborates with families of affected children worldwide to better understand the clinical effects of chromosome 6 aberrations and to support clinical guidance. A microarray report is required for participation, and detailed phenotype information is collected directly from parents through a multilingual web-ba… Show more

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Cited by 4 publications
(2 citation statements)
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“…For two individuals, their terminal deletion was known to be the result of a ring chromosome 6 [ 23 , 32 ]. The ring also included a small terminal 6p deletion without phenotypic consequences [ 38 ]. There were no differences in the phenotype between the individuals with a ring chromosome and individuals with a comparable simple deletion.…”
Section: Resultsmentioning
confidence: 99%
“…For two individuals, their terminal deletion was known to be the result of a ring chromosome 6 [ 23 , 32 ]. The ring also included a small terminal 6p deletion without phenotypic consequences [ 38 ]. There were no differences in the phenotype between the individuals with a ring chromosome and individuals with a comparable simple deletion.…”
Section: Resultsmentioning
confidence: 99%
“…This was the start of a collaboration that resulted in the Chromosome 6 Project, which is “Driven by parents, for parents”. Over time, the closed Facebook group grew to over 1200 members, and more than 250 families worldwide currently participate in the phenotype–genotype studies of the Chromosome 6 Project 25 . The aim of this project is to collect detailed and accessible information on the effect of chromosome 6 aberrations and to provide this crucial information to parents and health professionals.…”
Section: Introductionmentioning
confidence: 99%