caa a22 4500 467983364 CHVBK 20180323112524.0 cr unu---uuuuu 170328e19900501xx s 000 0 eng 10.1007/BF00210814 doi (NATIONALLICENCE)springer-10.1007/BF00210814 Female with hypohidrotic ectodermal dysplasia and de novo (X;9) translocation [Elektronische Daten] Clinical documentation of the AnLy cell line case [Kay MacDermot, Maj Hultén] Summary: 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 Springer-Verlag, 1990 MacDermot Kay The Children's Hospital, Ladywood Middleway, B16 8ET, Birmingham, UK aut Hultén Maj Regional Cytogenetic Laboratory, East Birmingham Hospital, Bordesley Green East, B9 5ST, Birmingham, UK aut Human Genetics Springer-Verlag 84/6(1990-05-01), 577-579 0340-6717 84:6<577 1990 84 439 https://doi.org/10.1007/BF00210814 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00210814 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- MacDermot Kay The Children's Hospital, Ladywood Middleway, B16 8ET, Birmingham, UK aut NATIONALLICENCE 700 1- Hultén Maj Regional Cytogenetic Laboratory, East Birmingham Hospital, Bordesley Green East, B9 5ST, Birmingham, UK aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 84/6(1990-05-01), 577-579 0340-6717 84:6<577 1990 84 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer