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Clinical Pediatrics, Vol. 16, No. 11, 1021-1026 (1977)
DOI: 10.1177/000992287701601112

The X Isochromosome-X Syndrome [46,X,i(Xq)]

Report of Three Cases with Review of the Phenotype

Joao A. M. Santana

Department of Physiology, Federal University of Sergipe, Aracaju, Sergipe, Brazil

Lytt I. Gardner

Genetic and Endocrine Unit, Department of Pediatrics, State University of New York, Upstate Medical Center, Syracuse, New York

Richard L. Neu

Division of Human Genetics, Children's Hospital of Buffalo, 86 Hodge Ave., Buffalo, New York 14222

It is important not to confuse the 46,X,i(Xq) syndrome with the 45,X classi cal Turner's syndrome. There are profound cytogenetic and clinical dif ferences between the two syndromes, which must be borne in mind in the differential diagnosis of amenorrhea and of infertility.


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