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Case Reports
. 1985;28(2):86-9.

Incontinentia pigmenti (IP) and r(X). Tentative mapping of the IP locus to the X juxtacentromeric region

J de Grouchy, C Turleau, M Doussau de Bazignan, P Maroteaux, D Thibaud
  • PMID: 3876068
Case Reports

Incontinentia pigmenti (IP) and r(X). Tentative mapping of the IP locus to the X juxtacentromeric region

J de Grouchy et al. Ann Genet. 1985.

Abstract

A 45,X/46,X,r(X) mosaicism was observed in an incontinentia pigmenti (Bloch-Sulzberger form) female patient, with mental retardation, short stature, and minor dysmorphisms. This observation is compatible with the regional assignment of the incontinentia pigmenti locus to the juxta-centromeric region of the X, the r(X) being of very small size.

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