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| 3-M syndrome ： ウィキペディア英語版 |
3-M syndrome
3-M syndrome (alternative names: dolichospondylic dysplasia, gloomy face syndrome and le Merrer syndrome) is a rare hereditary growth retardation syndrome.〔(ORPHANET - About rare diseases - About orphan drugs )〕 The name 3-M originates from the initials of the three authors Miller, McKusick and Malvaux who first reported the syndrome in literature.〔 Major symptoms of 3M syndrome are dwarfism, facial dysmorphia and skeletal abnormalities.〔 No signs of mental retardation are reported.〔 3-M syndrome is thought to be inherited as an autosomal recessive genetic trait.〔〔(Molecular Medicine Unit Research )〕
==Diagnosis==
DNA banking is the storage of DNA (typically extracted from white blood cells) for possible future use. Because it is likely that testing methodology and our understanding of genes, mutations, and diseases will improve in the future, consideration should be given to banking DNA of affected individuals. DNA banking is particularly relevant in situations in which molecular genetic testing is available on a research basis only. No laboratories offering molecular genetic testing for prenatal diagnosis of 3-M syndrome are listed in the GeneTests Laboratory Directory. However, prenatal testing may be available for families in which the disease-causing mutations have been identified in an affected family member in a research or clinical laboratory.〔( GeneReviews/NIH/NCBI/UW entry on 3-M syndrome )〕
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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