Human Genome Variation (Nov 2022)

Distal 2q duplication in a patient with intellectual disability

  • Toshifumi Suzuki,
  • Hitoshi Osaka,
  • Noriko Miyake,
  • Atsushi Fujita,
  • Yuri Uchiyama,
  • Rie Seyama,
  • Eriko Koshimizu,
  • Satoko Miyatake,
  • Takeshi Mizuguchi,
  • Satoru Takeda,
  • Naomichi Matsumoto

DOI
https://doi.org/10.1038/s41439-022-00215-8
Journal volume & issue
Vol. 9, no. 1
pp. 1 – 4

Abstract

Read online

Abstract We report on a patient with a distal 16.4-Mb duplication at 2q36.3-qter, who presented with severe intellectual disability, microcephaly, brachycephaly, prominent forehead, hypertelorism, prominent eyes, thin upper lip, and progenia. Copy number analysis using whole exome data detected a distal 2q duplication. This is the first report describing a distal 2q duplication at the molecular level.