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Prenatal diagnosis of a 5q35.3 microduplication involving part of the ADAMTS2 locus: a likely benign variant without apparent phenotypic abnormality: Case series.

著者 Yue F , Yu Y , Xi Q , Zhang H , Jiang Y , Li S , Liu R , Wang R
Medicine (Baltimore).2019 Dec ; 98(49):e18258.
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Chromosomal duplications are associated with a series of genetic disorders. However, chromosome 5q duplications, especially pure 5q35.3 microduplications, have rarely been reported in the literature. Clinical phenotypes usually depend on the region of chromosome duplicated, its size, and loci.
PMID: 31804359 [PubMed - in process]
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