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

doi:10.1002/ajmg.a.61005

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 journal › Article › peer-review

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 language	English (US)
Pages (from-to)	417-422
Number of pages	6
Journal	American Journal of Medical Genetics, Part A
Volume	179
Issue number	3
DOIs	https://doi.org/10.1002/ajmg.a.61005
State	Published - Mar 2019

Keywords

bone health
chromosome 18
dual x-ray absorptiometry
low bone density
tetrasomy 18p

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/ajmg.a.61005

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title = "Abnormal bone mineral content and density in people with tetrasomy 18p",

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.",

keywords = "bone health, chromosome 18, dual x-ray absorptiometry, low bone density, tetrasomy 18p",

author = "Alvaro Moreira and Hrishikesh Das and Minire Hasi-Zogaj and Bridgette Soileau and Annice Hill and Bruder, {Jan M.} and Hale, {Daniel E.} and Cody, {Jannine D.}",

note = "Funding Information: National Institutes of Health, Grant/Award Number: KL2 TR001118; National Center for Advancing Translational Sciences, Grant/ Award Number: Grant KL2 TR001118; Chromosome 18 Registry and Research Society Funding Information: This work was supported by the Chromosome 18 Registry and Research Society and the National Center for Advancing Translational Sciences, National Institutes of Health, through Grant KL2 TR001118. The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIH. Publisher Copyright: {\textcopyright} 2019 Wiley Periodicals, Inc.",

year = "2019",

month = mar,

doi = "10.1002/ajmg.a.61005",

language = "English (US)",

volume = "179",

pages = "417--422",

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AU - Moreira, Alvaro

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.

N1 - Funding Information: National Institutes of Health, Grant/Award Number: KL2 TR001118; National Center for Advancing Translational Sciences, Grant/ Award Number: Grant KL2 TR001118; Chromosome 18 Registry and Research Society Funding Information: This work was supported by the Chromosome 18 Registry and Research Society and the National Center for Advancing Translational Sciences, National Institutes of Health, through Grant KL2 TR001118. The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIH. Publisher Copyright: © 2019 Wiley Periodicals, Inc.

PY - 2019/3

Y1 - 2019/3

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 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.

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 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.

KW - bone health

KW - chromosome 18

KW - dual x-ray absorptiometry

KW - low bone density

KW - tetrasomy 18p

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

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Keywords

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