Resumo

VAZQUEZ-DEL CAMPO, AR et al. Duplicación 5q34q35.3 que involucra el gen NSD1: región delimitada por microarreglos de hibridación genómica comparativa. A propósito de un caso. Acta pediatr. Méx [online]. 2016, vol.37, n.5, pp.271-281. ISSN 2395-8235.

The 5q34q35.3 duplication has been associated with a reversed Sotos syndrome because it contains double doses of NSD1 gene. We present a female patient with global developmental delay, low weight and height, dysmorphia, a history of surgical closer of atrial and ventricular septal defects and craniosynostosis. A karyotype reported a 5p duplication: 46,XX,add(5)(q35) and the FISH with WCP probes for chromosome 5 reports 46,XX,add(5)(q35).ish dup(5)(q35)(wcp5+). CytoScan HD Affymetrix Microarray was realized to define breakpoints that confirmed a de novo interstitial duplication of 14Mb 46,XX,add(5)(q35). arr[hg19] 5q34q35.3(163,110,984-177,227,216x3,177,259,401179,330,764x3,179,346,465-180,719,789x3)dn, which contains 80 genes (USCS genome browser, NCBI36 / hg19). The description of this case is important to complement the delineation of the phenotype and genotype of the 5q34q35.3 duplication. This case shows the importance and usefulness of the new molecular cytogenetic techniques, with which the detailed analysis of genes localized in the 5q region would not be possible, neither the correlation with its clinical manifestations.

Palavras-chave : 5q34q35.3 duplication; microarrays; intellectual disability; short stature; craniosynostosis.

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