A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients
A 15q24 microduplication, reciprocal to the minimal critical region for the recently described 15q24 microdeletion syndrome, was found in a 2-year-old boy by 244k Agilent oligoarray CGH analysis. The boy had global developmental delay and dysmorphic facial features, digital and genital abnormalities. The duplication was inherited from a healthy father, but was considered clinically significant, as the patient shared clinical features with 15q24 microdeletion syndrome patients. To our knowledge this is the first report of a patient with a 15q24 microduplication. (C) 2008 Elsevier Masson SAS. All fights reserved.
机构:
Univ Manchester, St Marys Hosp, Acad Unit Med Genet, Manchester M13 0JH, Lancs, EnglandUniv Manchester, St Marys Hosp, Acad Unit Med Genet, Manchester M13 0JH, Lancs, England
Tassabehji, M
;
Donnai, D
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Univ Manchester, St Marys Hosp, Acad Unit Med Genet, Manchester M13 0JH, Lancs, EnglandUniv Manchester, St Marys Hosp, Acad Unit Med Genet, Manchester M13 0JH, Lancs, England
机构:
Univ Manchester, St Marys Hosp, Acad Unit Med Genet, Manchester M13 0JH, Lancs, EnglandUniv Manchester, St Marys Hosp, Acad Unit Med Genet, Manchester M13 0JH, Lancs, England
Tassabehji, M
;
Donnai, D
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h-index: 0
机构:
Univ Manchester, St Marys Hosp, Acad Unit Med Genet, Manchester M13 0JH, Lancs, EnglandUniv Manchester, St Marys Hosp, Acad Unit Med Genet, Manchester M13 0JH, Lancs, England