Interstitial 14q24.3 to q31.3 deletion in a 6 year old boy with a nonspecific dysmorphic phenotype

• Autor(a) principal: Riegel, Mariluce
• Data de Publicação: 2014
• Outros Autores: Moreira, Lília Maria de Azevedo, Espírito Santo, Layla Damasceno do, Toralles, Maria Betânia Pereira, Schinzel, Albert
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Institucional da UFRGS
• Texto Completo: http://hdl.handle.net/10183/129901
• topic: Genética médica; Cromossomos humanos par 14; Genotypephenotype correlation; 14q interstitial deletion; ArrayCGH

Background Few patients with interstitial deletions in the distal long arm of chromosome 14 have been reported, and these patients showed rather indistinct features, including growth and mental retardation and phenotypic alterations. Results We describe a de novo 14q interstitial deletion in a 6yearold boy with dysmorphic facial traits such as hypertelorism, short and narrow palpebral fissures, broad nose with anteverted nostrils, long philtrum, thin upper lip with cupid’s bow, prominent and everted lower lip, mildly lowset ears, as well as moderate developmental delay and mild mental retardation. ArrayCGH mapped the deletion to the region 14q24.3 to 14q31.3, including 13.11 Mb, proximal to the imprinted genomic region of 14q32. Conclusion This mild phenotypic presentation suggests that the deleted segment does not contain essential genes for early organ development. Twentytwo genes with known functions, including Neurexin III (NRXN3, OMIM 600567), map to the region deleted in the propositus.