A new case of pure partial 7q duplication.

  title={A new case of pure partial 7q duplication.},
  author={Melissa Alfonsi and Chiara Palka and Elisena Morizio and Valentina Gatta and Sara Franchi and Paolo Guanciali Franchi and Roberto Zori and Giuseppe Calabrese and Giandomenico Palka and Francesco G Chiarelli},
  journal={Cytogenetic and genome research},
  volume={136 1},
We report on an 18-month-old boy conceived by assisted reproduction technology with developmental delay, hypotonia, microcephaly, frontal bossing, a mild convergent squint, malformed ears, and a short neck. Karyotype analysis revealed a de novo 7q21.1q22.3 duplication characterized by array comparative genomic hybridization (array-CGH) as a segment of 18.69 Mb. Duplications of the long arm of chromosome 7 are uncommon. There are 18 reported cases of different 7q segments with a pure duplication… CONTINUE READING