{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T10:53:03Z","timestamp":1773053583052,"version":"3.50.1"},"reference-count":8,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2001,12,3]],"date-time":"2001-12-03T00:00:00Z","timestamp":1007337600000},"content-version":"vor","delay-in-days":2,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2001,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>Careful investigation of hydrops fetalis (HF) is important with regard to genetic counselling and prenatal diagnosis. HF is known to be associated with various genetic disorders. To date there has been only one report of a male fetus in whom incontinentia pigmenti (IP) was associated with generalised oedema. We describe a family who had a girl with clinical signs of IP after three consecutive miscarriages of three male fetuses due to HF.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Molecular genetic analysis showed a mutation in the NEMO\/IKK\u03c7 gene in the girl and the mother, which confirmed the diagnosis of IP in both cases. In the two fetuses that could be investigated, inheritance of the affected maternal X chromosome could be demonstrated retrospectively by linkage analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The present findings suggest that IP might be an X\u2010linked dominant trait causing HF in male fetuses. In cases of recurrent HF in male fetuses, minimal signs of IP in the maternal line should therefore be carefully investigated in order to be able to perform mutational analysis and to offer appropriate genetic counselling. Copyright \u00a9 2001 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.165","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T16:22:28Z","timestamp":1030292548000},"page":"1019-1021","source":"Crossref","is-referenced-by-count":11,"title":["Hydrops fetalis in three male fetuses of a female with incontinentia pigmenti"],"prefix":"10.1002","volume":"21","author":[{"given":"Andreas","family":"Dufke","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brigitte","family":"Vollmer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heidemarie","family":"Kendziorra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susanne","family":"Mackensen\u2010Haen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ulrike","family":"Orth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thorsten","family":"Orlikowsky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Gal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2001,12,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1067-2389(96)80036-7"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006254-199702000-00022"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.1.53"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340313"},{"key":"e_1_2_1_6_1","first-page":"633","article-title":"L'interruption spontanee des grossesses de foetus males atteints dans l'incontinentia pigmenti (a propos d'une famille)","volume":"26","author":"Odent S","year":"1997","journal-title":"J Gynecol Obstet Biol Reprod Paris"},{"key":"e_1_2_1_7_1","doi-asserted-by":"crossref","first-page":"854","DOI":"10.1101\/gad.14.7.854","article-title":"Severe liver degeneration and lack of NF\u2010kappa B activation in NEMO\/IKK gamma\u2010deficient mice","volume":"14","author":"Rudolph D","year":"2000","journal-title":"Genes Dev"},{"key":"e_1_2_1_8_1","first-page":"466","article-title":"The International Incontinentia Pigmenti (IP) Consortium 2000. Genomic rearrangement in NEMO impairs NF\u2010\u03baB activation and is a cause of incontinentia pigmenti","volume":"405","author":"Smahi A","journal-title":"Nature"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-0528.1992.tb14443.x"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.165","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.165","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,18]],"date-time":"2023-11-18T15:52:34Z","timestamp":1700322754000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.165"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,12]]},"references-count":8,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2001,12]]}},"alternative-id":["10.1002\/pd.165"],"URL":"https:\/\/doi.org\/10.1002\/pd.165","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,12]]}}}