{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T12:48:23Z","timestamp":1761742103528,"version":"build-2065373602"},"reference-count":25,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2000,7,1]]},"abstract":"<jats:p>To our knowledge, 22 cases of chromosome 14 maternal uniparental disomy (UPD(14)mat) have been reported so far. The majority of cases were ascertained because of an abnormal phenotype associated with a Robertsonian translocation involving chromosome 14. We report here on a child with UPD(14)mat detected prenatally and resulting from trisomy rescue in a maternal meiosis I non-disjunction trisomic zygote. After four years of clinical follow up, in addition to intrauterine growth retardation (IUGR), only short stature and small hands and feet were observed. These clinical data as well as the ascertainment and mechanism of origin of UPD(14)mat were compared with those observed in previously reported cases. It appears that the clinical spectrum of UPD(14)mat is milder in our patient than in patients with UPD(14)mat resulting from other chromosomal mechanisms. In addition, a hypothesis based on abnormal imprinting is proposed to explain the variability of the UPD(14)mat.<\/jats:p>","DOI":"10.1136\/jmg.37.7.525","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T06:38:40Z","timestamp":1027751920000},"page":"525-528","source":"Crossref","is-referenced-by-count":43,"title":["Maternal uniparental heterodisomy of chromosome 14: chromosomal mechanism and clinical follow up"],"prefix":"10.1136","volume":"37","author":[{"given":"D","family":"Sanlaville","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M C","family":"Aubry","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y","family":"Dumez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M C","family":"Nolen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Amiel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M P","family":"Pinson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Lyonnet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Munnich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Vekemans","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N","family":"Morichon-Delvallez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2000,7,1]]},"reference":[{"key":"2025101721375915000_37.7.525.1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320060207"},{"key":"2025101721375915000_37.7.525.2","first-page":"A379","article-title":"Maternal uniparental disomy for chromosome 14 by secondary nondisjunction of an initial trisomy.","volume":"55","author":"Morichon-Delvallez","year":"1994","journal-title":"Am J Hum Genet Suppl"},{"key":"2025101721375915000_37.7.525.3","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.8.511"},{"key":"2025101721375915000_37.7.525.4","first-page":"690","article-title":"Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy.","volume":"50","author":"Pentao","year":"1992","journal-title":"Am J Hum Genet"},{"key":"2025101721375915000_37.7.525.5","first-page":"1145","article-title":"Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14.","volume":"52","author":"Antonarakis","year":"1993","journal-title":"Am J Hum Genet"},{"key":"2025101721375915000_37.7.525.6","first-page":"290","article-title":"A somatic origin of homologous Robertsonian translocation and isochromosomes.","volume":"54","author":"Robinson","year":"1994","journal-title":"Am J Hum Genet"},{"key":"2025101721375915000_37.7.525.7","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320510213"},{"key":"2025101721375915000_37.7.525.8","doi-asserted-by":"publisher","DOI":"10.1007\/BF00212041"},{"key":"2025101721375915000_37.7.525.9","first-page":"169","article-title":"Maternal uniparental disomy for chromosome 14.","volume":"45","author":"Coviello","year":"1996","journal-title":"Acta Genet Med Gemellol"},{"key":"2025101721375915000_37.7.525.10","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320590302"},{"key":"2025101721375915000_37.7.525.11","first-page":"698","article-title":"Further evidence for an emerging maternal uniparental disomy for chromosome 14. 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