| Literature DB >> 33732667 |
Abstract
Partial deletion of 10p chromosome is a rare chromosomal aberration. Submicroscopic deletion of 10p15.3 is mainly related to cognitive deficits, speech disorders, motor delay, and hypotonia with the deleted region ranging from 0.15 to 4 Mb. The clinical phenotype is mainly determined by the ZMYND11 and DIP2C genes. Here, we report a rare case of feeding difficulties, hypocalcemia, and psychomotor retardation. Our patient has a 12.48 Mb deletion in 10p15.3-10p13, which is the second case of large 10p deletion among reported cases thus far.Entities:
Keywords: 10p deletion; copy number variation; feeding difficulty; hypocalcemia; psychomotor retardation
Year: 2021 PMID: 33732667 PMCID: PMC7959834 DOI: 10.3389/fped.2021.603666
Source DB: PubMed Journal: Front Pediatr ISSN: 2296-2360 Impact factor: 3.418