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PMID: 3612714 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Osteogenesis imperfecta type IIA: evidence for dominant inheritance.

Journal of medical genetics ·Vol. 24 ·No. 7 ·1987-07-00 ·Pages 386-9

Young ID, Thompson EM, Hall CM, Pembrey ME

Abstract

Thirty cases of radiologically proven type IIA osteogenesis imperfecta (OI) have been ascertained. All were isolated with 19 unaffected foreborn and 19 unaffected afterborn sibs. Two sets of parents, both Asian, were consanguineous. There was a significant parental age effect, most marked for paternal age. It is concluded that most cases of type IIA OI result from new dominant mutations.

MeSH Terms
Consanguinity Female Genes, Dominant Humans Infant, Newborn Male Maternal Age Mutation Osteogenesis Imperfecta/diagnostic imaging,genetics Paternal Age Radiography
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Young I D
Thompson E M
Hall C M
Pembrey M E
References (14)
14 references, click to expand
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Article Info
Journal
Journal of medical genetics
Abbr.
J Med Genet
ISSN
0022-2593
DOI
10.1136/jmg.24.7.386
Published
1987-07-00
Pages
386-9
Language
English
Region
England
NLM ID
2985087R
PMCID
PMC1050145
Subset
IM
External Links
PubMed source DOI: 10.1136/jmg.24.7.386 PMC Full Text View journal details
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