publication . Other literature type . Article . 2018

Xq26.3 Duplication in a Boy With Motor Delay and Low Muscle Tone Refines the X-Linked Acrogigantism Genetic Locus

Giampaolo Trivellin; Erin Sharwood; Hadia Hijazi; Claudia M B Carvalho; Bo Yuan; Katrina Tatton-Brown; David Coman; James R Lupski; Andrew M Cotterill; Maya B Lodish; ...
Open Access English
  • Published: 03 Aug 2018
  • Publisher: Endocrine Society
Abstract
We describe a 4-year-old boy with developmental delay who was found to carry by clinical grade (CG) molecular cytogenetics (MCs) a chromosome Xq26 microduplication. The report prompted a referral of the patient for possible X-linked acrogigantism (X-LAG), a well-defined condition (MIM300942) due to chromosomal microduplication of a nearby region. The patient was evaluated clinically and investigated for endocrine abnormalities related to X-LAG and not only did he not have acrogigantism, but his growth parameters and other hormones were all normal. We then performed high definition MCs and the duplication copy number variant (CNV) was confirmed to precisely map o...
Subjects
free text keywords: Case Report, Gene duplication, Gene, Candidate gene, Copy-number variation, Biology, Phenotype, Chromosome, Locus (genetics), Genetics, Molecular cytogenetics
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publication . Other literature type . Article . 2018

Xq26.3 Duplication in a Boy With Motor Delay and Low Muscle Tone Refines the X-Linked Acrogigantism Genetic Locus

Giampaolo Trivellin; Erin Sharwood; Hadia Hijazi; Claudia M B Carvalho; Bo Yuan; Katrina Tatton-Brown; David Coman; James R Lupski; Andrew M Cotterill; Maya B Lodish; ...