Abnormal bone mineral content and density in people with tetrasomy 18p

Alvaro Moreira, Hrishikesh Das, Minire Hasi-Zogaj, Bridgette Soileau, Annice Hill, Jan M. Bruder, Daniel E. Hale, Jannine D. Cody

Research output: Contribution to journalArticle

Abstract

Tetrasomy 18p is a rare chromosomal abnormality, resulting from an additional iso-chromosome composed of two copies of the short arm. It is characterized by craniofacial abnormalities, neuromuscular dysfunction, and developmental delay. The Chromosome 18 Clinical Research Center has established the largest cohort of individuals with this rare genetic condition. Here, we describe a case series of 21 individuals with tetrasomy 18p who have a previously unreported clinical finding: low bone mineral density. Most individuals met criteria for low bone density despite being relatively young (mean age of 21 years). Clinicians providing care to individuals affected by Tetrasomy 18p should be aware of their increased risk for decreased bone density and pathological fractures.

Original languageEnglish (US)
Pages (from-to)417-422
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume179
Issue number3
DOIs
StatePublished - Mar 2019

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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    Moreira, A., Das, H., Hasi-Zogaj, M., Soileau, B., Hill, A., Bruder, J. M., Hale, D. E., & Cody, J. D. (2019). Abnormal bone mineral content and density in people with tetrasomy 18p. American Journal of Medical Genetics, Part A, 179(3), 417-422. https://doi.org/10.1002/ajmg.a.61005