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Klinefelter's syndrome and incontinentia pigmenti Bloch-Sulzberger
Human Genetics
|February 11, 1977
Abstract:
We report a newborn with incontinentia pigmenti Bloch-Sulzberger and male phenotype. Chromosome analysis revealed a Klinefelter's syndrome 47,XXY. These findings are compatible with the hypothesis of dominant sexlinked genes carried on the X-chromosome in this disease.