Klinefelter's syndrome and incontinentia pigmenti Bloch-Sulzberger

descriptionPublicationkeyboard_double_arrow_right Article 01 Jan 1977 English Publisher:Springer Science and Business Media LLCJournal:Human Genetics, volume 35, pages 237-240 (issn: 0340-6717, eissn: 1432-1203,

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Authors: J, Kunze; U H, Frenzel; E, Hüttig; , Grosse F-R; , Wiedemann H-R;

doi: 10.1007/bf00393976

pmid: 844872

Klinefelter's syndrome and incontinentia pigmenti Bloch-Sulzberger

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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.

Related Organizations

Kiel University
Germany

Keywords

Male, Klinefelter Syndrome, Sex Chromosomes, Infant, Newborn, Humans, Syndrome, Pigmentation Disorders, Genes, Dominant

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