{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T17:21:40Z","timestamp":1773076900579,"version":"3.50.1"},"reference-count":18,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2004,5,21]],"date-time":"2004-05-21T00:00:00Z","timestamp":1085097600000},"content-version":"vor","delay-in-days":20,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2004,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>Incontinentia pigmenti (IP) is a rare X\u2010linked dominant genodermatosis that is usually lethal in males in the prenatal period. Largely 80% of cases are accounted for by a large\u2010scale deletion encompassing exons 4 to 10 of the <jats:italic>NEMO<\/jats:italic> gene. The aim of this work was to facilitate prenatal diagnosis of IP by devising a novel test for detection of the prevalent NEMO deletion.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We devised a sensitive and reproducible multiplex PCR test enabling simultaneous amplification of the deleted and wild\u2010type <jats:italic>NEMO<\/jats:italic> genes in IP female individuals.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Combination of this DNA test, with Xq28 linkage analysis and X\u2010inactivation pattern study enabled us to offer an IP prenatal diagnosis in 15 of the 16 couples at a 50% risk to have an affected offspring.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>A current approach to IP prenatal diagnosis is proposed on the basis of the previously mentioned molecular tools. Copyright \u00a9 2004 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.889","type":"journal-article","created":{"date-parts":[[2004,5,21]],"date-time":"2004-05-21T13:00:46Z","timestamp":1085144446000},"page":"384-388","source":"Crossref","is-referenced-by-count":42,"title":["A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti"],"prefix":"10.1002","volume":"24","author":[{"given":"Julie","family":"Steffann","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Val\u00e9rie","family":"Raclin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Asmae","family":"Smahi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hayley","family":"Woffendin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arnold","family":"Munnich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sue J.","family":"Kenwrick","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne\u2010Gaelle","family":"Grebille","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandra","family":"Benachi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yves","family":"Dumez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean\u2010Paul","family":"Bonnefont","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sma\u00efl","family":"Hadj\u2010Rabia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,5,21]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"1229","article-title":"Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen\u2010receptor gene correlates with X chromosome inactivation","volume":"51","author":"Allen RC","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.22.2557"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10150"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0009-9120(99)00023-5"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1976.01630280059017"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981116)80:3<298::AID-AJMG26>3.0.CO;2-Y"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/380152a0"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/85837"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V83.4.931.931"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1465614"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1515\/CCLM.1999.065"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0888-7543(05)80212-5"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(91)90348-S"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.1.53"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.11.1777"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980113)75:2<159::AID-AJMG7>3.0.CO;2-O"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(89)90350-9"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/35013114"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.889","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.889","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T17:13:55Z","timestamp":1700154835000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.889"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,5]]},"references-count":18,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2004,5]]}},"alternative-id":["10.1002\/pd.889"],"URL":"https:\/\/doi.org\/10.1002\/pd.889","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,5]]}}}