2q31.2q32.3 deletion syndrome: report of an adult patient.

@article{Prontera20092q312q323DS,
  title={2q31.2q32.3 deletion syndrome: report of an adult patient.},
  author={Paolo Prontera and Laura Bernardini and Gabriela Stangoni and Anna Capalbo and Daniela Rogaia and Carmela Ardisia and Antonio Novelli and Bruno Dallapiccola and G. Venti Donti},
  journal={American journal of medical genetics. Part A},
  year={2009},
  volume={149A 4},
  pages={
          706-12
        }
}
A 36-year-old patient with a disorder characterized by severe mental retardation, behavioral problems, dysmorphic face, "muscular build," and hand/foot anomalies, is reported. Following a diagnosis of de novo pericentric inversion of chromosome 8 based on standard cytogenetic analysis, a subsequent 75 kb array-CGH investigation disclosed a deletion spanning for about 13.7 Mb in the 2q31.2q32.3 region. Whole painting of chromosome 8 established the intrachromosomal nature of the rearrangement… CONTINUE READING
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