Abnormal bone mineral content and density in people with tetrasomy 18p
| Autor: | Hrishikesh Das, Minire Hasi-Zogaj, Bridgette Soileau, Alvaro Moreira, Daniel E. Hale, Jan M. Bruder, Annice Hill, Jannine D. Cody |
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| Rok vydání: | 2018 |
| Předmět: |
Adult
Male Pediatrics medicine.medical_specialty Adolescent Craniofacial abnormality Young Adult Tetrasomy 18p Chromosome 18 Bone Density Genetics medicine Low bone density Humans Genetic Predisposition to Disease Child Genetics (clinical) Genetic Association Studies Bone mineral business.industry medicine.disease Aneuploidy Osteopenia Clinical research Phenotype Cohort Female business Chromosomes Human Pair 18 Biomarkers |
| Zdroj: | American journal of medical genetics. Part A. 179(3) |
| ISSN: | 1552-4833 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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