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

Alvaro G 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 osteopenia 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)
JournalAmerican Journal of Medical Genetics, Part A
DOIs
StateAccepted/In press - Jan 1 2019

Fingerprint

Bone Density
Craniofacial Abnormalities
Chromosomes, Human, Pair 18
Spontaneous Fractures
Metabolic Bone Diseases
Bone Fractures
Chromosome Aberrations
Chromosomes
Research
Tetrasomy 18p Chromosome 18

Keywords

  • bone health
  • chromosome 18
  • dual x-ray absorptiometry
  • osteopenia
  • tetrasomy 18p

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Abnormal bone mineral content and density in people with tetrasomy 18p. / Moreira, Alvaro G; Das, Hrishikesh; Hasi-Zogaj, Minire; Soileau, Bridgette; Hill, Annice; Bruder, Jan M; Hale, Daniel E.; Cody, Jannine D.

In: American Journal of Medical Genetics, Part A, 01.01.2019.

Research output: Contribution to journalArticle

Moreira, Alvaro G ; Das, Hrishikesh ; Hasi-Zogaj, Minire ; Soileau, Bridgette ; Hill, Annice ; Bruder, Jan M ; Hale, Daniel E. ; Cody, Jannine D. / Abnormal bone mineral content and density in people with tetrasomy 18p. In: American Journal of Medical Genetics, Part A. 2019.
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