Two unrelated patients with multiple congenital malformations and severe mental retardation were found to be carriers of a non-mosaic ring 22 chromosome abnormality. These observations further confirm the phenotypical variability of r(22) expression, which makes unreliable the attempts to delineate a clinical profile of the syndrome.
|Number of pages||4|
|Journal||Acta Geneticae Medicae et Gemellologiae|
|Publication status||Published - 1977|
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