{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T21:04:49Z","timestamp":1790802289280,"version":"4.1.0"},"reference-count":41,"publisher":"American Academy of Pediatrics (AAP)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2002,3,1]]},"abstract":"<jats:p>Objective. Many short-statured children lack an etiologic explanation for their retarded growth. Recently, uniparental disomy (UPD), the inheritance of both chromosomes of a chromosome pair from only 1 parent, has been associated with short stature for many chromosomes. Silver-Russell syndrome (SRS) represents an extreme syndrome of intrauterine growth retardation (IUGR) and slight dysmorphic signs, and maternal UPD of human chromosome 7 (matUPD7) has been observed in approximately 10% of SRS cases. In addition, matUPD7 has been reported in patients with only slight dysmorphic features and prenatal or postnatal growth retardation. The objectives of this study were to study the role of matUPD7 in growth failure of unknown cause and in cases of SRS, and to evaluate the efficiency of genetic testing for matUPD7 as a diagnostic tool.<\/jats:p>\n               <jats:p>Methods. DNA samples were studied from 205 children, 92 girls and 113 boys, with short stature of unknown cause and their parents. The patient cohort included 39 cases of SRS, 91 patients with IUGR and subsequent postnatal short stature, and 75 patients with postnatal growth retardation only. MatUPD7 was screened for by genotyping DNA samples from the patient, mother, and father with 13 chromosome-7-specific polymorphic microsatellite markers.<\/jats:p>\n               <jats:p>Results. Six (3%) of 205 matUPD7 cases were observed exclusively among 39 (15%) SRS patients studied. Patients with IUGR and\/or postnatal growth retardation and with dysmorphic features did not reveal cases of matUPD7.<\/jats:p>\n               <jats:p>Conclusions. Our results indicate that matUPD7 cases are predominantly observed among patients meeting the criteria of SRS, and matUPD7 is not a common cause for growth retardation. Genetic screening for cases of matUPD7 among growth-retarded patients should be focused on patients with severe IUGR and features of SRS. In addition, matUPD7 screening is advisable in individuals with cystic fibrosis and other recessive disorders mapped to chromosome 7 who have unusually short stature.<\/jats:p>","DOI":"10.1542\/peds.109.3.441","type":"journal-article","created":{"date-parts":[[2004,8,14]],"date-time":"2004-08-14T00:17:55Z","timestamp":1092442675000},"page":"441-448","source":"Crossref","is-referenced-by-count":31,"title":["Genetic Screening for Maternal Uniparental Disomy of Chromosome 7 in Prenatal and Postnatal Growth Retardation of Unknown Cause"],"prefix":"10.1542","volume":"109","author":[{"given":"Katariina","family":"Hannula","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, University of Helsinki, Helsinki, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marita","family":"Lipsanen-Nyman","sequence":"additional","affiliation":[{"name":"Hospital for Children and Adolescents, Helsinki University Central Hospital, Helsinki, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula","family":"Kristo","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Helsinki, Helsinki, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilkka","family":"Kaitila","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit, Helsinki University Central Hospital, Helsinki, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kalle O. J.","family":"Simola","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Center for Laboratory Medicine, Tampere University Hospital, Tampere, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanna Liisa","family":"Lenko","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Tampere, Tampere, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pa\u0308ivi","family":"Tapanainen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Oulu, Oulu, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christer","family":"Holmberg","sequence":"additional","affiliation":[{"name":"Hospital for Children and Adolescents, Helsinki University Central Hospital, Helsinki, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juha","family":"Kere","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Helsinki, Helsinki, Finland"},{"name":"Finnish Genome Center, University of Helsinki, Helsinki, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2002,3,1]]},"reference":[{"key":"2021121104554679900_R1","unstructured":"Cowell CT. 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Abnormal phenotypes in uniparental disomy (UPD): fundamental aspects and a critical review with bibliography of UPD other than 15. Am J Med Genet.1999;82:265\u2013274","DOI":"10.1002\/(SICI)1096-8628(19990129)82:3<265::AID-AJMG14>3.0.CO;2-6"},{"key":"2021121104554679900_R9","doi-asserted-by":"crossref","unstructured":"Nicholls RD. The impact of genomic imprinting for neurobehavioral and developmental disorders. J Clin Invest.2000;105:413\u2013418","DOI":"10.1172\/JCI9460"},{"key":"2021121104554679900_R10","doi-asserted-by":"crossref","unstructured":"Silver HK, Kiyasu W, George J, Dreamer WC. Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins. Pediatrics.1953;12:368\u2013375","DOI":"10.1542\/peds.12.4.368"},{"key":"2021121104554679900_R11","unstructured":"Russell A. A syndrome of \u201cintra-uterine\u201d dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms, and other anomalies (5 examples). Proc R Soc Med.1954;47:1040\u20131044"},{"key":"2021121104554679900_R12","unstructured":"Spence JE, Perciaccante RG, Greig GM, et al. Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet.1988;42:217\u2013226"},{"key":"2021121104554679900_R13","doi-asserted-by":"crossref","unstructured":"Voss R, Ben-Simon E, Avital A, et al. Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans?Am J Hum Genet.1989;45:373\u2013380","DOI":"10.1016\/0168-9525(89)90184-4"},{"key":"2021121104554679900_R14","unstructured":"Spotila LD, Sereda L, Prockop DJ. Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COLIA2 locus. Am J Hum Genet.1992;51:1396\u20131405"},{"key":"2021121104554679900_R15","unstructured":"Eggerding FA, Schonberg SA, Chehab FF, Norton ME, Cox VA, Epstein CJ. Uniparental disomy for paternal 7p and maternal 7q in a child with growth retardation. 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