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Arquivos de Neuro-Psiquiatria

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DIAMENT, Aron J.; WAJNTAL, Anita  and  SALDANHA, P. H.. Pyle's syndrome and chromosomal breakage: a case report. Arq. Neuro-Psiquiatr. [online]. 1971, vol.29, n.1, pp.93-102. ISSN 0004-282X.

The clinical and karyotypic analysis of a 7 years old girl with Pyle's disease are reported. Clinically the patient presented an unusual neuropsychic involution and pyramido-extrapyramidal symptomatology. The karyotypic analysis showed chromosomal breakage em 12% of the cells. However the genealogical study of the patient pointed towards a recessive disease. Various hypothesis of chromosomal breakage in recessive diseases are discussed, the possibility of secondary breakage being emphasized.

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