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Endocrinologie. 1983 Oct-Dec;21(4):279-83.

A case of long arm deletion of the X-chromosome in a patient with Turner syndrome.

Abstract

The work presents the clinical and cytogenetic findings in a 16 year-old female-patient with Turnerian phenotype and 46 XX, del(X)(q 13 leads to q ter) caryotype. The authors discuss the difficulties of correlating the caryotype to the phenotype in X chromosome structural aberation cases.

PMID:
6665503
[Indexed for MEDLINE]
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