title: Female with hypohidrotic ectodermal dysplasia and de novo (X;9) translocation. Clinical documentation of the AnLy cell line case.
abstract: We present here a historical documentation of a female with X-linked hypohidrotic ectodermal dysplasia (XHED) and a de novo X/9 chromosome translocation. The patient was verbally reported by Dr. P.L. J. Cook to the HGM conference in 1973, but was subsequently lost to follow up. We have since traced her and confirmed the diagnosis of XHED with moderately severe mental retardation. According to Dr. P. L. J. Cook's records, fibroblast cell line AnLy GMO 705, was derived from this patient. Another female with a de novo X/12 chromosome translocation and hypohidrotic ectodermal dysplasia was recently reported. In both cases, the X chromosome breakpoint appears to be at Xq13.1.
authors.affiliation: Children's Hospital, Ladywood Middleway, Birmingham, UK.
authors.forename: K D
authors.initials: KD
authors.lastname: MacDermot
authors.forename: M
authors.initials: M
authors.lastname: Hultén
mesh_terms: D002460:Cell Line; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D014178:Translocation, Genetic / Q000235:genetics*; D014960:X Chromosome