Article

7p22.3 microdeletion: a case study of a patient with congenital heart defect, neurodevelopmental delay and epilepsy

2024-05-06

Abstract excerpt

<title>Abstract</title> <p>Background Chromosome 7 has regions enriched with low copy repeats (LCRs), which increase the likelihood of chromosomal microdeletion disorders. Documented microdeletion disorders on chromosome 7 include both well-known Williams syndrome and more rare cases. It is noteworthy that most cases of various microdeletions are characterized by phenotypic signs of neuropsychological developmen...

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Literature Corpus work: b742c61f-eba2-5209-bc34-4ddd9bb296e7
DOI: 10.21203/rs.3.rs-4200985/v1

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