{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T04:28:26Z","timestamp":1777868906532,"version":"3.51.4"},"reference-count":0,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2009,11,26]],"date-time":"2009-11-26T00:00:00Z","timestamp":1259193600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2009,11,26]],"date-time":"2009-11-26T00:00:00Z","timestamp":1259193600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Fetal Diagn Ther"],"abstract":"<jats:p>In 38 fetuses with holoprosencephaly, cordocentesis and blood karyotyping was performed. The karyotype was normal in all 12 cases with isolated holoprosencephaly, and in all 5 with holoprosencephaly and facial defects only. In contrast, 11 of the 21 (52%) fetuses with extrafacial malformations were chromosomally abnormal [47xx + 13, n = 6; 47xy + 13, n = 2; 47xx + 18, n = 1; 46xx \u2013\u2013 18+i(18q), n = 1; 46xy 21q\u2013\u2013, n = 1]. In the chromosomally normal group, there was parental consanguinity in 2 cases and recurrence of holoprosencephaly in 3.<\/jats:p>","DOI":"10.1159\/000263552","type":"journal-article","created":{"date-parts":[[2009,11,27]],"date-time":"2009-11-27T16:32:47Z","timestamp":1259339567000},"page":"92-99","source":"Crossref","is-referenced-by-count":45,"title":["Fetal Holoprosencephaly: Associated Malformations and Chromosomal Defects"],"prefix":"10.1159","author":[{"given":"S.M.","family":"Berry","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Gosden","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.J.M.","family":"Snijders","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.H.","family":"Nicolaides","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2009,11,26]]},"container-title":["Fetal Diagnosis and Therapy"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000263552","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T12:51:21Z","timestamp":1777553481000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000263552"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,11,26]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1159\/000263552","archive":["Portico"],"relation":{},"ISSN":["1015-3837","1421-9964"],"issn-type":[{"value":"1015-3837","type":"print"},{"value":"1421-9964","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,11,26]]}}}