An XXXX sex chromosome complex in two mentally defective females
Carr, D.H.; Barr, M.L.; Plunkett, E.R.
Canadian Medical Association Journal 84: 131-137
1961
ISSN/ISBN: 0008-4409 PMID: 13690988 Document Number: 8242
Two mentally defective but otherwise normal females had an unusual sex chromatin pattern in their interphase nuclei. In addition to typical sex chromatin-positive nuclei, some contained two and others three, masses of sex chromatin. A chromosome analysis, using the leukocyte method, showed that both patients had 48 chromosomes, or two in excess of the normal complement for man. The extra elements were considered to be × chromosomes, giving a tetrα-X sex chromosome complex. The additional × chromosomes probably arose through non-disjunction of × chromosomes during oogenesis or an early division of the fertilized ovum. × chromosomes in excess of the normal female complement are apparently compatible with normal maturation of ovaries and other components of the reproductive system, but the tetra-X complex is perhaps an etiological factor in the mental deficiency.
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