Article

Genetic analysis of de novo 17q terminal partial trisomy

2023-09-26

Abstract excerpt

<h4>Background: </h4> Chromosomal trisomy syndromes are associated with diverse clinical phenotypes, including intellectual disabilities. Partial trisomy of distal 17q is a rare anomaly with similar clinical features, including psychomotor and growth deficits, facial dysmorphism, and microcephaly. Here, we describe three patients from two unrelated families with terminal trisomy of 17q detected using chromosomal k...

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Literature Corpus work: 3cf76020-1dbe-598c-85f7-f3b5ee50bbd7
DOI: 10.21203/rs.3.rs-3357718/v1

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