engleski

A novel de novo dir dup (16) (q12.1-q21) in a girl with behavioral disorder, mild cognitive impairment, speech delay, and dysmorphic features: case report and review of the literature

We report here on the 10-year follow up and clinical, cytogenetic and molecular investigation of a girl admitted for evaluation because of speech delay, learning difficulties, aggressive behavior and dysmorphic facial features that included high forehead, round face, epicanthic folds, low-set dysplastic ears, flat nasal bridge, long flat philtrum, thin upper lip, small mouth, and short neck. The analysis of high-resolution GTG- and CTG-banding chromosomes suggested a de novo direct duplication of 16q12- q21 region and FISH analysis with WCP-16 probe confirmed that the duplicated genetic material originates from chromosome 16. Subsequently, array-based comparative genomic hybridization (aCGH) analysis with a 75 kb resolution showed a 9.92 Mb gain on the long arm of chromosome 16 at bands q12.1 through q21. To the best of our knowledge, this is the first case of duplication 16q12.1q21 described in literature. Several genes within the duplicated region are of interest for possible correlation with clinical features present in our patient. Clinical and cytogenetic findings are compared with the small number of reported patients with pure duplications 16q partially overlapping the one seen in our patient. Clinical phenotype seem to be distinctive between the proximal-intermediate and intermediate-distal regions of the long arm of chromosome 16. In particular, we have observed a set of dysmorphic features that could present a characteristic dup 16q11.2-q13 phenotype. The present work illustrates the advantages of an integrative approach using both conventional and molecular techniques for the precise characterization and genotype-phenotype correlation in patients with dysmorphism, behavioral problems and learning difficulties.

interstitial duplication ; chromosome 16 ; oligonucleotide ; microarray ; speech delay

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