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Review
. 1992;35(1):51-4.

Incontinentia pigmenti (type 1) and X;5 translocation

P Bitoun  1 , C Philippe, M Cherif, M T Mulcahy, S Gilgenkrantz
Affiliations
  • PMID: 1610121
Review

Incontinentia pigmenti (type 1) and X;5 translocation

P Bitoun et al. Ann Genet. 1992.

Abstract

The authors present a 5-year-old girl with total absence of speech, dysmorphic features, pigmented lesions on the legs, an abnormal EEG and otherwise normal intelligence representing a mild form of type 1 Incontinentia pigmenti associated with an (X;5) (p11.2;q35.2) apparently balanced translocation prenatally diagnosed. The seven previous translocation type 1 IP patients are reviewed and all have the same Xp11 breakpoint. Somatic cell hybrids have been made to further study this breakpoint and further define the putative type 1 IP gene.

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