Incontinentia pigmenti: Xp breakpoint is not the same in a case of r(X) and in X/autosome translocations.
X-specific DNA probes were used to characterize the r(X) of a 45,X/46,X,r(X) female patient with Incontinentia pigmenti. It was found to be of maternal origin. Breakpoints were shown to be in or distal to p11.22 and between q12.2 and q13.1. When considering all known cases of Incontinentia pigmenti and X rearrangements at least four different break sites on the X have been shown.
Sefiani
A
A
U.12 INSERM, Hôpital Necker-Enfants-Malades, Paris.
Heuertz
S
S
Turleau
C
C
Thibaud
D
D
de Grouchy
J
J
Hors-Cayla
M C
MC
D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D025063:Chromosome Disorders; D002899:Chromosomes, Human, Pair 9 / Q000648:ultrastructure*; D015342:DNA Probes; D004303:Dosage Compensation, Genetic; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D007184:Incontinentia Pigmenti / Q000235:genetics*; D009030:Mosaicism; D010641:Phenotype; D010859:Pigmentation Disorders / Q000235:genetics*; D012303:Ring Chromosomes; D014178:Translocation, Genetic; D014960:X Chromosome / Q000648:ultrastructure*
D015342:DNA Probes; D005819:Genetic Markers