Subtelomeric microdeletion in chromosome 20p13 associated with short stature.

Key Clinical Message: Among the total 10 reported cases with 20p13 microdeletion, including our patient, it is notable that 50% of patients presented a height below the 3rd percentile. We suggest that short stature is among the most common manifestations in patients with 20p13 subtelomeric microdeletion.

Abstract: Chromosome 20p13 microdeletion occurs rarely, with only 10 reported cases.

Genotype-phenotype correlation in IARS2-related diseases: A case report and review of literature.

Isoleucyl-tRNA synthetase 2 encodes mitochondrial isoleucine-tRNA synthetase. Pathogenic variants in the  gene are associated with mitochondrial disease. We report a female with compound heterozygous variants, p.

HSD10 disease in a female: A case report and review of literature.

HSD10 disease is a rare X-linked mitochondrial disorder caused by pathogenic variants in the gene. The phenotype results from impaired 17β-hydroxysteroid dehydrogenase 10 (17β-HSD10) protein structure and function. HSD10 is a multifunctional protein involved in enzymatic degradation of isoleucine and branched-chain fatty acids, the metabolism of sex hormones and neurosteroids, as well as in regulating mitochondrial RNA maturation.