Clinical report of a neonate carrying a large deletion in the 10p15.3p13 region and review of the literature

Abstract

Background Terminal deletion of chromosome 10p is a rare chromosomal abnormality. We report a neonatal case with a large deletion of 10p15.3p13 diagnosed early because of severe clinical manifestations. Case presentation Our patient presented with specific facial features, hypoparathyroidism, sen sorineural deafness, renal abnormalities, and developmental retardation, and carried a 12.6 Mb deletion in the 10p15.3 p13 region. The terminal 10p deletion involved in our patient is the second largest reported terminal deletion reported to date, and includes the ZMYND11 and GATA3 genes and a partial critical region of the DiGeorge syndrome 2 gene (DGS2). Conclusion On the basis of a literature review, this terminal 10p deletion in the present case is responsible for a specific contiguous gene syndrome. This rare case may help the understanding of the genotype–phenotype spectrum of terminal deletion of chromosome 10p.

Early pediatric palliative care involvement in a child with a large deletion of the short arm (p) of chromosome 10: a case report

“…Distal monosomy 10p is a rare chromosomal disorder due to the deletion of the terminal portion of the short arm of chromosome 10; the phenotype varies according to the size of the chromosomal loss, but is usually characterized by intellectual disability, postnatal growth retardation, structural birth defects and dysmorphisms (1)(2)(3).…”