Rare Ring Chromosome 7 Case Links Severe Hypertriglyceridemia to Genetic Syndrome

A 14-year-old Chinese girl evaluated for severe short stature has been found to carry an extremely rare chromosomal abnormality known as ring chromosome 7, and her case adds two unexpected findings to the condition’s known picture: severe hypertriglyceridemia and mild echocardiographic abnormalities. The report, published in BMC Pediatrics, describes a mosaic karyotype of 46,XX,r(7)(p22q36)[56]/45,XX,-7[4], with no normal peripheral blood cell line detected. Whole-exome sequencing did not identify additional pathogenic or likely pathogenic variants relevant to her phenotype, while chromosomal microarray analysis and parental karyotyping were unavailable.

Ring chromosome 7 is described in the report as an extremely rare constitutional chromosomal abnormality. The most frequently reported features include growth retardation, pigmented skin lesions, and microcephaly, but the authors note that the full phenotypic spectrum remains incompletely defined, particularly with regard to metabolic abnormalities and mild cardiovascular findings. The new case, they write, may broaden the reported clinical spectrum of the syndrome by highlighting severe hypertriglyceridemia as a potentially under-recognized metabolic manifestation.

The girl was referred for severe short stature, and her examination revealed a constellation of features consistent with previously described cases. She had microcephaly, mild-to-moderate intellectual disability, bilateral epicanthal folds, left strabismus, and multiple scattered pigmented melanocytic nevi. She also had a bilateral single palmar crease and lumbar scoliosis. Laboratory testing revealed severe hypertriglyceridemia, measured at 9.19 mmol/L, a level the report characterizes as severe.

Echocardiography showed a small pericardial effusion and mild tricuspid regurgitation. The authors suggest that mild echocardiographic abnormalities may occur in addition to the major congenital cardiac defects described in some previously reported patients with the syndrome.

Conventional cytogenetic analysis identified the mosaic karyotype, in which 56 cells carried the ring chromosome 7 spanning p22 to q36 and 4 cells showed monosomy 7, with no normal peripheral blood cell line detected.

The diagnostic journey in this case was prolonged, and the authors use this delay to underscore the importance of early chromosomal evaluation in children with unexplained growth failure accompanied by dysmorphic features, neurodevelopmental concerns, or characteristic skin findings.

Whole-exome sequencing was performed to look for additional genetic contributors to the girl’s phenotype, but it did not identify any pathogenic or likely pathogenic variants relevant to the features observed. Chromosomal microarray analysis and parental karyotyping were unavailable in this case, leaving some questions about the origin and full extent of the chromosomal rearrangement unanswered.

The authors position the metabolic abnormality as a potentially under-recognized manifestation that clinicians evaluating similar patients may wish to consider.

By highlighting severe hypertriglyceridemia and mild echocardiographic abnormalities in a patient with otherwise typical features of the syndrome, the report offers a more complete picture of what ring chromosome 7 may involve. The authors frame their contribution as one that may broaden the reported clinical spectrum of the condition, while reinforcing the value of chromosomal evaluation when children present with unexplained growth failure and associated dysmorphic, neurodevelopmental, or skin findings.

Subject of Research: A case report of ring chromosome 7 syndrome in a 14-year-old girl with severe hypertriglyceridemia and mild echocardiographic abnormalities.

Article Title: Ring chromosome 7 syndrome with severe hypertriglyceridemia and mild echocardiographic abnormalities: a case report

Article References: Ma, R., Liu, Y., & Wei, F. (2026). Ring chromosome 7 syndrome with severe hypertriglyceridemia and mild echocardiographic abnormalities: a case report. BMC Pediatrics. https://doi.org/10.1186/s12887-026-07602-y

Image Credits: AI Generated

DOI: 10.1186/s12887-026-07602-y

Keywords: ring chromosome 7, hypertriglyceridemia, echocardiography, case report, chromosomal abnormality, short stature, microcephaly, mosaic karyotype, BMC Pediatrics, genetic syndrome, Ring, chromosome