Chromosome analysis of peripheral blood leucocytes of a 20-year-old patient with eunuchoid habitus, hypogenitalism, malocclusion and severe mental deficiency revealed a chromosome number of 48 and indicated an XXXY sex chromosome constitution. Cells from buccal smears were sex-chromatin positive, as ...
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44.7.1Male—48,XXXY, 49,XXXXY, 48,XYYY, 48,XXYY and 49,XYYYY The most significant effects of additionalX chromosomeson phenotype are a reduction in intellectual functioning and an increase inmalformations. Approximately 1 in 85,000 males is born with a 49,XXXXYkaryotype(248), whereas 48...
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