Chromosome 15q11-q13 copy number gain detected by array-CGH in two cases with a maternal methylation pattern

BACKGROUND: The 15q11-q13 region contains many low copy repeats and is well known for its genomic instability. Several syndromes are associated with genomic imbalance or copy-number-neutral uniparental disomy. We report on two patients: Patient 1 is a boy with developmental delay and autism; and Pat...

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Detalles Bibliográficos
Autores principales: Tan, Ee-Shien, Yong, Min-Hwee, Lim, Eileen CP, Li, Zhi-hui, Brett, Maggie SY, Tan, Ene-Choo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4067100/
https://www.ncbi.nlm.nih.gov/pubmed/24959201
http://dx.doi.org/10.1186/1755-8166-7-32

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4067100/
https://www.ncbi.nlm.nih.gov/pubmed/24959201
http://dx.doi.org/10.1186/1755-8166-7-32

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