{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T21:21:28Z","timestamp":1760908888116},"reference-count":24,"publisher":"Oxford University Press (OUP)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,8,1]]},"DOI":"10.1309\/ajcpblmprxku1jue","type":"journal-article","created":{"date-parts":[[2014,7,11]],"date-time":"2014-07-11T19:19:07Z","timestamp":1405106347000},"page":"248-253","source":"Crossref","is-referenced-by-count":11,"title":["Neonatal Silver-Russell Syndrome With Maternal Uniparental Heterodisomy, Trisomy 7 Mosaicism, and Dysplasia of the Cerebellum"],"prefix":"10.1093","volume":"142","author":[{"given":"Fatma","family":"Abdelhedi","sequence":"first","affiliation":[{"name":"Cytogenetics Laboratory, APHP, Cochin Hospital, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laila","family":"El Khattabi","sequence":"additional","affiliation":[{"name":"Cytogenetics Laboratory, APHP, Cochin Hospital, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurence","family":"Cuisset","sequence":"additional","affiliation":[{"name":"Laboratory of Biochemistry and Molecular Genetics, APHP, Cochin Hospital, Paris, France"},{"name":"Paris Descartes University, Faculty of Medicine, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vassilis","family":"Tsatsaris","sequence":"additional","affiliation":[{"name":"Paris Descartes University, Faculty of Medicine, Paris, France"},{"name":"Department of Gynecology-Obstetrics, APHP, Cochin Hospital, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Geraldine","family":"Viot","sequence":"additional","affiliation":[{"name":"Paris Descartes University, Faculty of Medicine, Paris, France"},{"name":"Department of Gynecology-Obstetrics, APHP, Cochin Hospital, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luc","family":"Druart","sequence":"additional","affiliation":[{"name":"Cytogenetics, Biomnis Laboratory, Paris, France."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aziza","family":"Lebbar","sequence":"additional","affiliation":[{"name":"Cytogenetics Laboratory, APHP, Cochin Hospital, Paris, France"},{"name":"Paris Descartes University, Faculty of Medicine, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean-Michel","family":"Dupont","sequence":"additional","affiliation":[{"name":"Cytogenetics Laboratory, APHP, Cochin Hospital, Paris, France"},{"name":"Paris Descartes University, Faculty of Medicine, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2014,8,1]]},"reference":[{"key":"key\n\t\t\t\t20180602033301_b1-1420248","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1002\/(SICI)1096-8628(19961111)65:4<348::AID-AJMG19>3.0.CO;2-U","article-title":"Trisomy 7 CVS mosaicism: pregnancy outcome, placental and DNA analysis in 14 cases","volume":"65","author":"Kalousek","year":"1996","journal-title":"Am J Med Genet"},{"key":"key\n\t\t\t\t20180602033301_b2-1420248","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1002\/(SICI)1097-0223(199606)16:6<511::AID-PD904>3.0.CO;2-8","article-title":"Confined placental mosaicism for trisomies 2, 3, 7, 8, 9, 16 and 22: their incidence, likely origins, and mechanisms for cell lineage compartmentalization","volume":"16","author":"Wolstenholme","year":"1996","journal-title":"Prenat Diagn"},{"key":"key\n\t\t\t\t20180602033301_b3-1420248","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1136\/jmg.32.11.871","article-title":"Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7","volume":"32","author":"Langlois","year":"1995","journal-title":"J Med Genet"},{"key":"key\n\t\t\t\t20180602033301_b4-1420248","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/S0003-3995(00)00010-1","article-title":"Formation of uniparental disomy delineated from new cases and a UPD7 case after trisomy 7 rescue: presentation of own results and review of the literature","volume":"43","author":"Mergenthaler","year":"2000","journal-title":"Ann Genet"},{"key":"key\n\t\t\t\t20180602033301_b5-1420248","doi-asserted-by":"crossref","first-page":"1067","DOI":"10.1002\/pd.1297","article-title":"Prenatal diagnosis of low-level mosaic trisomy 7 by amniocentesis","volume":"25","author":"Chen","year":"2005","journal-title":"Prenat Diagn"},{"key":"key\n\t\t\t\t20180602033301_b6-1420248","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1002\/(SICI)1097-0223(199703)17:3<201::AID-PD56>3.0.CO;2-H","article-title":"Rare trisomy mosaicism diagnosed in amniocytes, involving an autosome other than chromosomes 13, 18, 20, and 21: karyotype\/phenotype correlations","volume":"17","author":"Hsu","year":"1997","journal-title":"Prenat Diagn"},{"key":"key\n\t\t\t\t20180602033301_b7-1420248","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1002\/pd.348","article-title":"Prenatally detected trisomy 7 mosaicism in a dysmorphic child","volume":"22","author":"Kivirikko","year":"2002","journal-title":"Prenat Diagn"},{"key":"key\n\t\t\t\t20180602033301_b8-1420248","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/j.tjog.2012.01.015","article-title":"Trisomy 7 mosaicism at amniocentesis: interphase FISH, QF-PCR, and aCGH analyses on uncultured amniocytes for rapid distinguishing of true mosaicism from pseudomosaicism","volume":"51","author":"Chen","year":"2012","journal-title":"Taiwan J Obstet Gynecol"},{"key":"key\n\t\t\t\t20180602033301_b9-1420248","doi-asserted-by":"crossref","first-page":"783","DOI":"10.1136\/jmg.30.9.783","article-title":"Hypomelanosis of Ito associated with mosaicism for trisomy 7 and apparent \u201cpseudomosaicism\u201d at amniocentesis","volume":"30","author":"Jenkins","year":"1993","journal-title":"J Med Genet"},{"key":"key\n\t\t\t\t20180602033301_b10-1420248","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1016\/S1028-4559(10)60070-8","article-title":"Mosaic trisomy 7 at amniocentesis: prenatal diagnosis and molecular genetic analyses","volume":"49","author":"Chen","year":"2010","journal-title":"Taiwan J Obstet Gynecol"},{"key":"key\n\t\t\t\t20180602033301_b11-1420248","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1002\/ajmg.a.10101","article-title":"Prenatal diagnosis of a trisomy 7\/maternal uniparental heterodisomy 7 mosaic fetus","volume":"118A","author":"Bilimoria","year":"2003","journal-title":"Am J Med Genet A"},{"key":"key\n\t\t\t\t20180602033301_b12-1420248","doi-asserted-by":"crossref","first-page":"1013","DOI":"10.1038\/sj.ejhg.5201442","article-title":"Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung\u2019s disease in a child with Silver-Russell syndrome","volume":"13","author":"Flori","year":"2005","journal-title":"Eur J Hum Genet"},{"key":"key\n\t\t\t\t20180602033301_b13-1420248","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1111\/j.1399-0004.2010.01621.x","article-title":"Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell-Silver syndrome","volume":"81","author":"Petit","year":"2012","journal-title":"Clin Genet"},{"key":"key\n\t\t\t\t20180602033301_b14-1420248","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1002\/bdra.20174","article-title":"Clinical outcome and follow-up of the first reported case of Russell-Silver syndrome with the unique combination of maternal uniparental heterodisomy 7 and mosaic trisomy 7","volume":"73","author":"Font-Montgomery","year":"2005","journal-title":"Birth Defects Res A Clin Mol Teratol"},{"key":"key\n\t\t\t\t20180602033301_b15-1420248","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1586\/erm.12.43","article-title":"Epigenetic and genetic diagnosis of Silver-Russell syndrome","volume":"12","author":"Eggermann","year":"2012","journal-title":"Expert Rev Mol Diagn"},{"key":"key\n\t\t\t\t20180602033301_b16-1420248","doi-asserted-by":"crossref","first-page":"1003","DOI":"10.1038\/ng1629","article-title":"Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome","volume":"37","author":"Gicquel","year":"2005","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t20180602033301_b17-1420248","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1542\/peds.12.4.368","article-title":"Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins","volume":"12","author":"Silver","year":"1953","journal-title":"Pediatrics"},{"key":"key\n\t\t\t\t20180602033301_b18-1420248","first-page":"1040","article-title":"A syndrome of intra-uterine dwarfism recognizable at birth with craniofacial dysostosis, disproportionately short arms, and other anomalies (5 examples)","volume":"47","author":"Russell","year":"1954","journal-title":"Proc R Soc Med"},{"key":"key\n\t\t\t\t20180602033301_b19-1420248","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1007\/s004310050064","article-title":"Maternal uniparental disomy 7\u2014review and further delineation of the phenotype","volume":"159","author":"Kotzot","year":"2000","journal-title":"Eur J Pediatr"},{"key":"key\n\t\t\t\t20180602033301_b20-1420248","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1007\/s004390050526","article-title":"Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy","volume":"100","author":"Eggermann","year":"1997","journal-title":"Hum Genet"},{"key":"key\n\t\t\t\t20180602033301_b21-1420248","first-page":"837","article-title":"The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria","volume":"36","author":"Price","year":"1999","journal-title":"J Med Genet"},{"key":"key\n\t\t\t\t20180602033301_b22-1420248","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1023\/A:1005612120886","article-title":"Transferrin protein variant mimicking carbohydrate-deficient glycoprotein syndrome in trisomy 7 mosaicism","volume":"23","author":"Knopf","year":"2000","journal-title":"J Inherit Metab Dis"},{"key":"key\n\t\t\t\t20180602033301_b23-1420248","doi-asserted-by":"crossref","first-page":"1587","DOI":"10.1093\/hmg\/9.11.1587","article-title":"Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion","volume":"9","author":"Blagitko","year":"2000","journal-title":"Hum Mol Genet"},{"key":"key\n\t\t\t\t20180602033301_b24-1420248","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1038\/sj.ejhg.5200583","article-title":"Maternal repression of the human GRB10 gene in the developing central nervous system: evaluation of the role for GRB10 in Silver-Russell syndrome","volume":"9","author":"Hitchins","year":"2001","journal-title":"Eur J Hum Genet"}],"container-title":["American Journal of Clinical Pathology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/ajcp\/article-pdf\/142\/2\/248\/24998390\/ajcpath142-0248.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,10]],"date-time":"2022-04-10T23:45:30Z","timestamp":1649634330000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ajcp\/article\/142\/2\/248\/1767056"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,8,1]]},"references-count":24,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2014,8,1]]},"published-print":{"date-parts":[[2014,8,1]]}},"URL":"https:\/\/doi.org\/10.1309\/ajcpblmprxku1jue","relation":{},"ISSN":["1943-7722","0002-9173"],"issn-type":[{"value":"1943-7722","type":"electronic"},{"value":"0002-9173","type":"print"}],"subject":[],"published-other":{"date-parts":[[2014,8,1]]},"published":{"date-parts":[[2014,8,1]]}}}