The authors describe the case of a child affected with mental and growth retardation, characterized by prominent forehead, hypertelorism, micrognathia, increased philtrum length, low set ears and bifid uvula, anomalies of the extremities, congenital heart lesions, genital anomalies. In this patient a trisomy of the chromosome 22 was demonstrated on the basis of the fluorescence pattern (Q bands). The findings of the present case are compared with those of patients in whom the trisomy was demonstrated by the aid of banding techniques, trying to determine the typical features of this autosomal anomaly. From this clinical point of view the previous cases of G trisomy without Down syndrome are reviewed, in order to establish the likelihood of the former diagnosis of trisomy 22. Finally, some considerations about the origin and the frequency of this syndrome are exposed.
|Number of pages||12|
|Journal||Journal de Genetique Humaine|
|Publication status||Published - 1975|
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