The authors describe the case of a child with mental and growth retardation, and a facies characterized by prominent forehead, hypertelorism, micrognathia, increased philtrum length, low set ears, anomalies of the extremities, congenital heart lesions, genital anomalies. In this patient a trisomy of the chromosome 22 was demonstrated by means of the fluorescence patterns (Q bands). The findings of the present case are compared with the findings of those patients in which the trisomy was demonstrated with the aid of banding techniques, trying to establish the typical features of this autosomal anomaly.
|Number of pages||1|
|Journal||Journal de Genetique Humaine|
|Publication status||Published - 1975|
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