title: Incontinentia pigmenti (type 1) and X;5 translocation.
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.
authors.affiliation: Hôpital Jean Verdier, Bondy, France.
authors.forename: P
authors.initials: P
authors.lastname: Bitoun
authors.forename: C
authors.initials: C
authors.lastname: Philippe
authors.forename: M
authors.initials: M
authors.lastname: Cherif
authors.forename: M T
authors.initials: MT
authors.lastname: Mulcahy
authors.forename: S
authors.initials: S
authors.lastname: Gilgenkrantz
mesh_terms: D002675:Child, Preschool; D002895:Chromosomes, Human, Pair 5; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007184:Incontinentia Pigmenti / Q000235:genetics*; D007621:Karyotyping; D014178:Translocation, Genetic / Q000235:genetics*; D014960:X Chromosome