{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,10]],"date-time":"2026-05-10T17:01:09Z","timestamp":1778432469796,"version":"3.51.4"},"reference-count":10,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2015,2,18]],"date-time":"2015-02-18T00:00:00Z","timestamp":1424217600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,3]]},"abstract":"<jats:sec><jats:label\/><jats:p>A 15q26 terminal chromosomal microdeletion was associated with markedly enlarged 1st trimester nuchal translucency in three of four pregnancies of a couple seen in our prenatal diagnosis unit. Nuchal translucency was normal in the couple's fourth pregnancy, which did not carry the microdeletion. The diagnosis of a 15q26.2\u2192qter microdeletion was first made when the couple's affected daughter displayed significant postnatal growth delay and minor malformations consistent with this contiguous gene syndrome. The microdeletion was confirmed on archived material from the first pregnancy, and identified prospectively on chorionic villi in the third pregnancy. This is the second reported case of familial recurrence of this microdeletion syndrome. As in the other reported family, no deletion or chromosomal rearrangement was identified in either parent, suggesting gonadal mosaicism as a possible cause. First trimester ultrasound findings in 15q26 terminal deletion syndrome have not previously been described. This family illustrates the utility of performing prenatal chromosomal microarray testing in the presence of ultrasound findings of enlarged nuchal translucency or structural abnormalities. \u00a9 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36913","type":"journal-article","created":{"date-parts":[[2015,2,18]],"date-time":"2015-02-18T06:39:36Z","timestamp":1424241576000},"page":"612-616","source":"Crossref","is-referenced-by-count":4,"title":["Recurrent enlarged nuchal translucency: First trimester presentation of a familial 15q26\u2192qter deletion"],"prefix":"10.1002","volume":"167","author":[{"given":"Rosemary","family":"Reiss","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology Center for Fetal Medicine and Prenatal Genetics Brigham and Women's Hospital Boston Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diane","family":"Ahern","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Center for Fetal Medicine and Prenatal Genetics Brigham and Women's Hospital Boston Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary","family":"Sandstrom","sequence":"additional","affiliation":[{"name":"Department of Pathology Center for Advanced Molecular Diagnostics Brigham and Women's Hospital Boston Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Louise","family":"Wilkins\u2010Haug","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Center for Fetal Medicine and Prenatal Genetics Brigham and Women's Hospital Boston Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,2,18]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2010-1789"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-9-2"},{"key":"e_1_2_4_4_1","unstructured":"Drayer NM Kamps WA ten Kate Kuipers LP Gouw JRG.1977. Microcephaly ocular hypertelorism low\u2010set ears hand and feet anomalies short stature and mental retardation. Case report 54 Syndrome Identification 1977 5:9\u201011."},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34440"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.168"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1468"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30939"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2007.08.003"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01064.x"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201652"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36913","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36913","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36913","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T18:48:16Z","timestamp":1696618096000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36913"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,2,18]]},"references-count":10,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2015,3]]}},"alternative-id":["10.1002\/ajmg.a.36913"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36913","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,2,18]]}}}