Hum Genet. 1977 Feb 11;35(2):237-40.

Klinefelter's syndrome and incontinentia pigmenti Bloch-Sulzberger.

Kunze J, Frenzel UH, Hüttig E, Grosse F-R, Wiedemann H-R.

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.

PMID:: 844872; [PubMed - indexed for MEDLINE]

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Incontinentia pigmenti in a boy with Klinefelter's syndrome. [J Med Genet. 1987]
Incontinentia pigmenti in a boy with Klinefelter's syndrome.
Ormerod AD, White MI, McKay E, Johnston AW. J Med Genet. 1987 Jul; 24(7):439-41.
Incontinentia pigmenti in a male infant with Klinefelter syndrome. [J Am Acad Dermatol. 1989]
Incontinentia pigmenti in a male infant with Klinefelter syndrome.
Prendiville JS, Gorski JL, Stein CK, Esterly NB. J Am Acad Dermatol. 1989 May; 20(5 Pt 2):937-40.
[Incontinentia pigmenti (Bloch-Sulzberger syndrome)]. [Ned Tijdschr Geneeskd. 1984]
[Incontinentia pigmenti (Bloch-Sulzberger syndrome)].
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Buinauskaite E, Buinauskiene J, Kucinskiene V, Strazdiene D, Valiukeviciene S. Pediatr Dermatol. 2010 Sep-Oct; 27(5):492-5. Epub 2010 Aug 27.
Review Incontinentia pigmenti: a review. [Cutis. 1988]
Review Incontinentia pigmenti: a review.
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Cited by 3 PubMed Central articles

Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome. [Am J Hum Genet. 2001]
Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome.
Kenwrick S, Woffendin H, Jakins T, Shuttleworth SG, Mayer E, Greenhalgh L, Whittaker J, Rugolotto S, Bardaro T, Esposito T, et al. Am J Hum Genet. 2001 Dec; 69(6):1210-7. Epub 2001 Oct 22.
Studies of a family with incontinentia pigmenti variably expressed in both sexes. [J Med Genet. 1982]
Studies of a family with incontinentia pigmenti variably expressed in both sexes.
Kurczynski TW, Berns JS, Johnson WE. J Med Genet. 1982 Dec; 19(6):447-51.
Incontinentia pigmenti in a boy with Klinefelter's syndrome. [J Med Genet. 1987]
Incontinentia pigmenti in a boy with Klinefelter's syndrome.
Ormerod AD, White MI, McKay E, Johnston AW. J Med Genet. 1987 Jul; 24(7):439-41.

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