Abstract:
:Most microdeletion syndromes identified before the implementation of array-comparative genomic hybridization (array-CGH) were presumed to be well-defined clinical entities. However, the introduction of whole-genome screening led not only to the description of new syndromes but also to the recognition of a broader spectrum of features for well-known syndromes. Here, we report on 10 patients presenting with mental retardation associated with atypical features not suggestive of a known microdeletion and a normal standard karyotype. Array-CGH analyses revealed five microdeletions in the DiGeorge region, three microdeletions in the Williams-Beuren region and two microdeletions in the Smith-Magenis region. Reevaluation in these patients confirmed that the diagnosis remained difficult on clinical grounds and emphasized that well-known genomic disorders can have a phenotype that is heterogeneous and more variable than originally thought. The widespread use of array-CGH shows that such patients may be more readily achieved on the basis of genotype rather than phenotype.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Mosca-Boidron AL,Bouquillon S,Faivre L,Callier P,Andrieux J,Marle N,Bonnet C,Vincent-Delorme C,Berri M,Plessis G,Manouvrier-Hanu S,Dieux-Coeslier A,Thauvin-Robinet C,Pipiras E,Delahaye A,Payet M,Ragon C,Masurel-Paulet Adoi
10.1111/j.1399-0004.2011.01747.xsubject
Has Abstractpub_date
2012-07-01 00:00:00pages
41-7issue
1eissn
0009-9163issn
1399-0004journal_volume
82pub_type
杂志文章abstract::Women who carry fragile X mental retardation 1 (FMR1)gene premutation expansions frequently report neurological or endocrine symptoms and prior studies have predominantly focused on questionnaire report of medical issues. Premutation carrier (PMC) women (n = 33) and non-carrier controls (n = 13) were recruited and eva...
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doi:
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