{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:06:08Z","timestamp":1761717968846},"reference-count":10,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":5512,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1990,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present the first reported case of prenatally diagnosed dup(22q) syndrome in a 20\u2010year\u2010old woman referred for genetic counseling because of a low maternal serum alphafetoprotein value. An ultrasound study at 22 weeks demonstrated oligohydramnios, intrauterine growth retardation, multiple facial malformations, and a cardiac defect. Fetal karyotype was 46, XYdup(22)(pter\u2192q13:: q12\u2192qter) by amniocentesis. Necropsy following pregnancy termination confirmed all prenatally delineated anomalies. Comparison is made with the complete and partial proximal dup(22q) syndromes. We emphasize the correlation between aneuploidy and the presence of low maternal serum alpha\u2010fetoprotein, oligohydramnios, and midgestational intrauterine growth retardation.<\/jats:p>","DOI":"10.1002\/ajmg.1320360118","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:48:41Z","timestamp":1118548121000},"page":"94-96","source":"Crossref","is-referenced-by-count":5,"title":["Midtrimester diagnosis and anomalies in the dup(22q) syndrome: Correlation of aneuploidy with low maternal serum alpha\u2010fetoprotein and oligohydramnios"],"prefix":"10.1002","volume":"36","author":[{"given":"Mark Paul","family":"Johnson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Greb","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gregory","family":"Goyert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arie","family":"Drugan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Faisal","family":"Qureshi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alan J.","family":"Sacks","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark I.","family":"Evans","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320314"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9378(88)80086-3"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.19.4.313"},{"key":"e_1_2_1_5_1","first-page":"37","article-title":"Trisomy 22q12\u2192qter: \u201cAneusomie de recombinaison\u201d of a pericentric inversion","volume":"24","author":"Cantu JM","year":"1981","journal-title":"Ann Genet (Paris)"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00285406"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb04382.x"},{"key":"e_1_2_1_8_1","first-page":"62","volume-title":"Smith's Recognizable Patterns of Human Malformation","author":"Jones KL","year":"1988"},{"key":"e_1_2_1_9_1","first-page":"47","article-title":"The 22q distal trisomy syndrome in a recombinant child","volume":"31","author":"Rivera H","year":"1988","journal-title":"Ann Genet (Paris)"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00274676"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00282012"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320360118","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320360118","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T17:50:46Z","timestamp":1697997046000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320360118"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,5]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1990,5]]}},"alternative-id":["10.1002\/ajmg.1320360118"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320360118","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1990,5]]}}}