Article

Prenatal diagnosis and genetic counseling of a paternally inherited microduplication 18q11.1 to 18q11.2 in a Chinese family

2022-08-17

Abstract excerpt

<h4>Background: </h4> Copy number variants (CNVs) are an important source of normal and pathogenic genome variations. Chromosomal imbalances of several megabasepair in size are normally deleterious for the carrier. Still, rarely reported are so-called “unbalanced chromosome abnormalities” (UBCAs), which are either gains or losses or equally large genomic regions, but the affected person is not or only minimally cl...

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Literature Corpus work: 4036907c-6b95-55e3-989c-3037980d76cf
DOI: 10.21203/rs.3.rs-1948717/v1

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