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Two cases of X/autosome translocation in females with incontinentia pigmenti |
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| Authors: | Shirley V. Hodgson B. Neville R. W. A. Jones Claudine Fear M. Bobrow |
| Affiliation: | (1) Paediatric Research Unit, Prince Philip Research Laboratories, Guy's Hospital Medical School, Guy's Tower, London Bridge, SE1 9RT London, England;(2) The Newcomen Centre, Guy's Hospital, London Bridge, SE1 9RT London, England;(3) Department of Paediatrics, Freedom Fields Hospital, Greenbank Terrace, PL4 7JJ Plymouth, England |
| Abstract: | Summary We report two unrelated girls who present some clinical features of severe incontinentia pigmenti (IP), with characteristic skin pigmentation. Both have balanced de novo X/autosome translocations involving band Xp11. The coincidence of the probable de novo expression of an X-linked disorder in these two girls with translocations involving similar breakpoints on the X chromosome suggests that this band may be the site of the IP gene locus. |
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