Article

Partial trisomy 21 with or without highly restricted-Down syndrome critical region (HR- DSCR). Report of two new cases and reanalysis of the genotype-phenotype association

2022-12-07

Abstract excerpt

<h4>Background: </h4> Down syndrome (DS) is caused by the presence of an extra copy of full or partial human chromosome 21 (Hsa21). Partial (segmental) trisomy 21 (PT21) is the duplication of only a delimited region of Hsa21 and can be associated or not to DS: the study of PT21 cases is an invaluable model for addressing genotype-phenotype correlation in DS. Previous works reported systematic reanalyses of 132 sub...

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Literature Corpus work: b1fc2bf9-b21a-5dad-997e-b2f95dae140a
DOI: 10.21203/rs.3.rs-2324513/v1

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