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High frequency of subtelomeric rearrangements in a cohort of 92 patients with severe mental retardation and dysmorphism

✍ Scribed by A Novelli; C Ceccarini; L Bernardini; D Zuccarello; V Caputo; MC Digilio; R Mingarelli; B Dallapiccola


Book ID
110725677
Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
995 KB
Volume
66
Category
Article
ISSN
0009-9163

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MLPA analysis for a panel of syndromes with mental retardation (MRS-MLPA) was used for investigation of 258 mentally retarded and dysmorphic patients with normal conventional karyotypes (P064 probe set, MRC-Holland, for detection of (micro)deletions associated with 1p36-deletion, Sotos, WilliamseBeu