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Aneurysmal bone cysts and pathologic fracture associated with supernumerary ring chromosome 6 in two unrelated

Lauren M Hurd1, Mihir M Thacker2, Ericka Okenfuss3

  • 1Department of Biomedical Research, Nemours-Alfred I. duPont Hospital for Children, Wilmington, Delaware.

American Journal of Medical Genetics. Part A
|October 29, 2017
PubMed

Insights

Small supernumerary ring chromosome 6 (sSRC[6]) can cause severe bone disorders, including osteopenia and fractures. This study identifies a novel skeletal phenotype associated with sSRC[6], offering new insights into its genetic basis.

Area of Science:

  • Genetics
  • Skeletal Biology
  • Chromosomal Abnormalities

Background:

  • Small supernumerary ring chromosome 6 (sSRC[6]) is a rare chromosomal abnormality with a variable clinical spectrum.
  • Previous studies have documented a range of phenotypes, from normal development to severe congenital anomalies.

Observation:

  • Two unrelated patients presented with a novel, complex bone disorder characterized by severe osteopenia, pathological fractures, and bone cysts.
  • Imaging revealed decreased bone mineral density, multiple multiloculated cysts, and cortical thinning.

Findings:

  • Array comparative genomic hybridization (CGH) identified tandem duplications and mosaicism of chromosome 6 regions (6p12.3-6q12 and 6p21.2-6q12) in the affected patients.
  • Histopathology showed bland cyst walls with entrapped woven, dysplastic bone.

Implications:

  • This study describes a previously uncharacterized skeletal phenotype in sSRC[6] patients.
  • Identifying the specific genes within the duplicated 6p/6q regions may elucidate the mechanisms underlying this bone disorder.
  • Further research can improve diagnosis and management of sSRC[6]-associated skeletal abnormalities.

Keywords:
bone cystsmosaic marker chromosomeosteochondrodysplasiaspathologic fracture

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