Incontinentia pigmenti (type 1) and X;5 translocation.
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.
Bitoun
P
P
Hôpital Jean Verdier, Bondy, France.
Philippe
C
C
Cherif
M
M
Mulcahy
M T
MT
Gilgenkrantz
S
S
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