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- Title
Pure interstitial dup(6)(q22.31q22.31) - a case report.
- Authors
Sheth, Frenny; Trivedi, Sunil; Andrieux, Joris; Blouin, Jean-Louis; Sheth, Jayesh
- Abstract
'Pure' interstitial duplication of chr6q is rare. The varying size of duplication encompassing 6q22.31 is associated with the expressivity of dysmorphism and autism. Here, we report a unique case with facial dysmorphism, developmental delay, complex neurological impairment and spasticity unrelated to autism. Genetic analysis by aCGH exhibited a 627-971 kb dup(6)(q22.31q22.31) encompassing TRDN and NKAIN2 genes. The presence of the duplication was confirmed by quantitative PCR in the proband and phenotypically normal parents. With the current techniques, we cannot exclude presence of a deleterious homozygous point mutation in the proband where each copy would have been inherited from both parents.
- Subjects
AUTISM risk factors; CHILD development deviations; CHROMOSOME abnormalities; GENETIC polymorphisms; MEDICAL genetics; SPASTICITY; PHENOTYPES; GENETIC testing; GENOMICS; CRANIOFACIAL abnormalities; MULTIPLE human abnormalities; CHILDREN
- Publication
Italian Journal of Pediatrics, 2015, Vol 41, Issue 1, p47
- ISSN
1720-8424
- Publication type
Article
- DOI
10.1186/s13052-015-0113-y