Distal 2q duplication in a patient with intellectual disability

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 d...

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Detalles Bibliográficos
Autores principales: Suzuki, Toshifumi, Osaka, Hitoshi, Miyake, Noriko, Fujita, Atsushi, Uchiyama, Yuri, Seyama, Rie, Koshimizu, Eriko, Miyatake, Satoko, Mizuguchi, Takeshi, Takeda, Satoru, Matsumoto, Naomichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9649592/
https://www.ncbi.nlm.nih.gov/pubmed/36357380
http://dx.doi.org/10.1038/s41439-022-00215-8
Descripción
Sumario: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.

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