The phenotype and rhGH treatment response of ring Chromosome 15 Syndrome: Case report and literature review.

ABSTRACT:

Background

Ring chromosome 15 [r (15)] is an uncommon finding with various clinical manifestations. A common phenotype for these patients has not been established and data on the efficacy of recombinant human growth hormone (rhGH) treatment in patients with r (15) syndrome are limited.

Methods

One short stature patient in our hospital with r (15) syndrome by whole exome sequencing (WES) and karyotype examination was included. All published r (15) syndrome cases as of March 15, 2021, were searched, and their clinical information was recorded and summarized.

Results

One 11.5-year-old female with prenatal and postnatal growth retardation, ventricular septal defect, intellectual disability, downward corners, short fifth metacarpal bone, scattered milk coffee spots, and a

SUBMITTER: Chen M 

PROVIDER: S-EPMC8683626 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature