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Complex chromosomal rearrangement involving 15q11‐q13 interstitial triplication and duplication: A new case report of dysmorphic and neuropsychiatric features

Our patient is the first to encompass the full spectrum of reported features related to tetrasomy of the Prader–Willi Angelman Critical Region. She has a complex chromosomal rearrangement including an interstitial triplication reported in twelve cases till date and a rare interstitial duplication re...

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Detalles Bibliográficos
Autores principales: Chilakamarri, Lekha, Mellin‐Sanchez, Estrella Lizbeth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9107916/
https://www.ncbi.nlm.nih.gov/pubmed/35600042
http://dx.doi.org/10.1002/ccr3.5835