A study of two Chinese patients with tetrasomy and pentasomy 15q11q13 including Prader-Willi/Angelman syndrome critical region present with developmental delays and mental impairment

BACKGROUND: The proximal chromosome 15q is prone to unequal crossover, leading to rearrangements. Although 15q11q13 duplications are common in patients with developmental delays and mental impairment, 15q aneusomies resulting in greater or equal to 4 copies of 15q11q13 are rare and no pentasomy 15q1...

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Detalles Bibliográficos
Autores principales: Yang, Jing, Yang, Yongchen, Huang, Yi, Hu, Yan, Chen, Xi, Sun, Hengjuan, Lv, Zhibao, Cheng, Qian, Bao, Liming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3598341/
https://www.ncbi.nlm.nih.gov/pubmed/23320815
http://dx.doi.org/10.1186/1471-2350-14-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3598341/
https://www.ncbi.nlm.nih.gov/pubmed/23320815
http://dx.doi.org/10.1186/1471-2350-14-9

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