Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance

BACKGROUND: Chromosome 22q11.2 is susceptible to genomic rearrangements and the most frequently reported involve deletions and duplications between low copy repeats LCR22A to LCR22D. Atypical nested deletions and duplications are rarer and can provide a valuable opportunity to investigate the dosage...

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Detalles Bibliográficos
Autores principales: Woodward, Karen J., Stampalia, Julie, Vanyai, Hannah, Rijhumal, Hashika, Potts, Kim, Taylor, Fiona, Peverall, Joanne, Grumball, Tanya, Sivamoorthy, Soruba, Alinejad‐Rokny, Hamid, Wray, John, Whitehouse, Andrew, Nagarajan, Lakshmi, Scurlock, Jacqueline, Afchani, Sabine, Edwards, Matthew, Murch, Ashleigh, Beilby, John, Baynam, Gareth, Kiraly‐Borri, Cathy, McKenzie, Fiona, Heng, Julian I. T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393688/
https://www.ncbi.nlm.nih.gov/pubmed/30614210
http://dx.doi.org/10.1002/mgg3.507

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393688/
https://www.ncbi.nlm.nih.gov/pubmed/30614210
http://dx.doi.org/10.1002/mgg3.507

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