Biomedical subjects
Publications and source records attributed to J L Arce.
Clinical features of a girl with mosaic 9-trisomy (46,XX/47,XX, + 9) are described. Trisomy was identified by means of G bands. Unusual spine, ribs and CNS abnormalities were observed. A comparison with 14 previous by described cases is made.
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Newborn male with convulsive crisis from the third day of life. Analysis and complementary examination, EEG excepted, were normal. After the 40th day of life, no further crisis were observed. Clinical evolution and psychomotor development were normal. Anamnesic findings: 13 members in five generations presented new born conculsions. No psychomotor alterations in the development were observed in all of them, excepted one. An early knowledge of this clinical picture, already described in six families, may avoid dangerous clinical examinations as well as a prolonged anticonvulsive treatment. The mode of inheritance is dominant autosomial.