A child with intellectual disability and dysmorphism due to complex ring chromosome 6: identification of molecular mechanism with review of literature

BACKGROUND: Ring chromosome 6 (r(6)) is a rare disorder that mainly occurs as a ‘de novo’ event. Nonetheless, a wide phenotypic spectrum has been reported in r(6) cases, depending on breakpoints, size of involved region, copy number alterations and mosaicism of cells with r(6) and/or monosomy 6 due...

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Vydáno v:Ital J Pediatr
Hlavní autoři: Sheth, Frenny, Liehr, Thomas, Shah, Viraj, Shah, Hillary, Tewari, Stuti, Solanki, Dhaval, Trivedi, Sunil, Sheth, Jayesh
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2018
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6180451/
https://ncbi.nlm.nih.gov/pubmed/30305128
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13052-018-0571-0
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