Summary
A short-statured phenotypic female with primary amenorrhoea, infantilism, shield chest and 9% sex chromatin bodies in buccal smears had 2 cell lines, 45/46, in cultured leucocytes. She was diagnosed as a case of Turner's syndrome with X/XX chromosomal mosaicism.
This patient is another example of modification of the Turner phenotype by the presence of a normal XX cell line.
The report highlights the importance of cytogenetic investigations in short-statured females who do not possess all the clinical features of the classical form of Turner’s syndrome.
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References
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From the Chaudhuri Centre for Medical Genetics, Calcutta-14.
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Chaudhuri, A. 45,X/46,XX mosaicism in turner’s syndrome. Indian J Pediatr 36, 171–174 (1969). https://doi.org/10.1007/BF02749325
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DOI: https://doi.org/10.1007/BF02749325