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

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...

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Vydáno v:J Endocr Soc
Hlavní autoři: Trivellin, Giampaolo, Sharwood, Erin, Hijazi, Hadia, Carvalho, Claudia M B, Yuan, Bo, Tatton-Brown, Katrina, Coman, David, Lupski, James R, Cotterill, Andrew M, Lodish, Maya B, Stratakis, Constantine A
Médium: Artigo
Jazyk:Inglês
Vydáno: Endocrine Society 2018
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6137279/
https://ncbi.nlm.nih.gov/pubmed/30525125
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2018-00156
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