Case Reports
doi: 10.1007/BF00393976.
Klinefelter's syndrome and incontinentia pigmenti Bloch-Sulzberger
- PMID: 844872
- DOI: 10.1007/BF00393976
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Case Reports
Klinefelter's syndrome and incontinentia pigmenti Bloch-Sulzberger
Hum Genet.
.
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.
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