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 language | English (US) |
|---|---|
| Journal | American Journal of Medical Genetics, Part A |
| DOIs | |
| State | Accepted/In press - Jan 1 2019 |
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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 journal › Article
}
TY - JOUR
T1 - Abnormal bone mineral content and density in people with tetrasomy 18p
AU - Moreira, Alvaro G
AU - Das, Hrishikesh
AU - Hasi-Zogaj, Minire
AU - Soileau, Bridgette
AU - Hill, Annice
AU - Bruder, Jan M
AU - Hale, Daniel E.
AU - Cody, Jannine D
PY - 2019/1/1
Y1 - 2019/1/1
N2 - 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.
AB - 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.
KW - bone health
KW - chromosome 18
KW - dual x-ray absorptiometry
KW - osteopenia
KW - tetrasomy 18p
UR - http://www.scopus.com/inward/record.url?scp=85059956320&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85059956320&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.61005
DO - 10.1002/ajmg.a.61005
M3 - Article
C2 - 30637922
AN - SCOPUS:85059956320
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
ER -