X-linked hypohidrotic ectodermal dysplasia and t(X;12) in a female.
A female patient with features of hypohidrotic ectodermal dysplasia (HED) was found to be a carrier of a de novo t(X;12) with a breakpoint in Xq13.1. This is the second instance of an X/autosome translocation, with apparently the same X breakpoint, reported in HED.
Turleau
C
C
U.173 INSERM-UAC.119 CNRS, Hôpital Necker-Enfants-Malades, France.
Niaudet
P
P
Cabanis
M O
MO
Plessis
G
G
Cau
D
D
de Grouchy
J
J
D002675:Child, Preschool; D002871:Chromosome Banding; D004476:Ectodermal Dysplasia / Q000150:complications / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D007621:Karyotyping; D007674:Kidney Diseases / Q000209:etiology; D014178:Translocation, Genetic; D014960:X Chromosome