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First Case Report of Maternal Mosaic Tetrasomy 9p Incidentally Detected on Non-Invasive Prenatal Testing

Tetrasomy 9p (ORPHA:3390) is a rare syndrome, hallmarked by growth retardation; psychomotor delay; mild to moderate intellectual disability; and a spectrum of skeletal, cardiac, renal and urogenital defects. Here we present a Chinese female with good past health who conceived her pregnancy naturally...

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Detalles Bibliográficos
Autores principales: Shu, Wendy, Cheng, Shirley S. W., Xue, Shuwen, Chan, Lin Wai, Soong, Sung Inda, Kan, Anita Sik Yau, Cheung, Sunny Wai Hung, Choy, Kwong Wai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7998520/
https://www.ncbi.nlm.nih.gov/pubmed/33807602
http://dx.doi.org/10.3390/genes12030370