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Article

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

Genes - 5 Mar 2021

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

Abstract excerpt

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. Non-invasive prenatal testing (NIPT) showed multiple chromosomal aberrations were consistently detected in two...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33807602
DOI: 10.3390/genes12030370
PMCID: PMC7998520

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