Article

De novo mosaic and partial monosomy of chromosome 21 in a case with superior vena cava duplication

2020-08-14

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>Full or partial monosomy of chromosome (chr) 21 is a very rare abnormal cytogenetic finding. It is characterized by variable sizes and deletion breakpoints on the long arm (q) of chr 21 that lead to a broad spectrum of phenotypes that include an increased risk of birth defects, developmental delay and intellectual deficit.<bold>Case presentation:</bold> We repor...

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Literature Corpus work: b13ca572-48b1-57d7-9f9d-4c0a961ced5a
DOI: 10.21203/rs.3.rs-39199/v2

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De novo mosaic and partial monosomy of chromosome 21 in a case with superior vena cava duplicationDOI 10.21203/rs.3.rs-39199/v2Read

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