{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:06:23Z","timestamp":1761717983706},"reference-count":11,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2006,2,28]],"date-time":"2006-02-28T00:00:00Z","timestamp":1141084800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2006,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe the first prenatally detected case of a small <jats:italic>de novo<\/jats:italic> interstitial duplication of chromosome 16q. This chromosomal aberration is extremely rare. Amniocentesis was indicated by advanced maternal age only. Ultrasound examinations of the foetus showed no abnormalities. Conventional and molecular cytogenetic analyses on cultured amniocytes by comparative genomic hybridisation (CGH) and fluorescence <jats:italic>in situ<\/jats:italic> hybridisation (FISH) using partial chromosome paints and a locus\u2010specific YAC clone revealed a <jats:italic>de novo<\/jats:italic> direct duplication of the chromosomal region 16q11.2\u2010q13 leading to a partial trisomy 16q (46,XX,dup(16)(q11.2q13)). There are only five postnatal reports of comparable duplications involving this chromosomal region. These patients presented with little or no associated dysmorphic features but with significant neurodevelopmental delay and severe behavioural problems. After genetic counselling, the parents opted for termination of pregnancy. Post\u2010mortem examination showed slight facial dysmorphic signs, minor dysgenesis of the ovaries and an atypical outflow of the arteria thyroidea ima. Copyright \u00a9 2006 John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/pd.1396","type":"journal-article","created":{"date-parts":[[2006,2,28]],"date-time":"2006-02-28T11:20:23Z","timestamp":1141125623000},"page":"273-276","source":"Crossref","is-referenced-by-count":8,"title":["Prenatal diagnosis and molecular cytogenetic characterisation of a small <i>de novo<\/i> interstitial duplication 16q11.2\u2010q13"],"prefix":"10.1002","volume":"26","author":[{"given":"Marc","family":"Trimborn","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rolf\u2010Dieter","family":"Wegner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Holger","family":"T\u00f6nnies","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nanette","family":"Sarioglu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthias","family":"Albig","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heidemarie","family":"Neitzel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,2,28]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"101","article-title":"Characterization of a partial trisomy 16q with FISH. Report of a patient and review of the literature","volume":"42","author":"Engelen JJ","year":"1999","journal-title":"Ann Genet"},{"key":"e_1_2_1_3_1","first-page":"46","article-title":"Direct duplication 16q11.1\u201316q13 is not associated with a typical dysmorphic syndrome","volume":"33","author":"Fryns JP","year":"1990","journal-title":"Ann Genet"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0165-4608(00)00349-6"},{"key":"e_1_2_1_5_1","volume-title":"Chromosome Abnormalities and Genetic Counselling","author":"Gardner RJM","year":"2004"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.ge.18.120184.000441"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460326"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320380110"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190312"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.85.9.3396"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1159\/000056983"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970150202"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.1396","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.1396","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,15]],"date-time":"2023-11-15T05:33:02Z","timestamp":1700026382000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.1396"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,2,28]]},"references-count":11,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2006,3]]}},"alternative-id":["10.1002\/pd.1396"],"URL":"https:\/\/doi.org\/10.1002\/pd.1396","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,2,28]]}}}