Translocation Mongolism with Virilizing Adrenal Hyperplasia
- 1 February 1971
- journal article
- research article
- Published by Oxford University Press (OUP) in American Journal of Clinical Pathology
- Vol. 55 (2) , 232-236
- https://doi.org/10.1093/ajcp/55.2.232
Abstract
The case of a newborn infant who was a female pseudohermaphrodite due to salt-losing congenital adrenal hyperplasia is reported. Analysis of chromosomes in peripheral leukocytes revealed 44 autosomes with t(DqGq) and XX sex chromosome complement. Chromosomal studies of the mother revealed t(DqGq) in all cells, and 10 of 39 cells had 45 chromosomes with absence of a whole chromosome. The father had no translocation, but 4 of 24 cells karyotyped had 47 chromosomes. This represents the first reported case of mongolism associated with congenital adrenal hyperplasia, and the fifth case of adrenal hyperplasia with chromosomal defects.Keywords
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