Clinical and molecular findings in two patients with russell-silver syndrome and UPD7: comparison with non-UPD7 cases
- PMID: 10564876
Clinical and molecular findings in two patients with russell-silver syndrome and UPD7: comparison with non-UPD7 cases
Abstract
The clinical presentation of prenatal and postnatal growth deficiency, triangular face, relative macrocephaly, and body asymmetry is frequently diagnosed as Russell-Silver syndrome (RSS). Maternal uniparental disomy (UPD) of chromosome 7 was reported previously in a small subset of individuals with RSS phenotype or primordial growth retardation. The primary purpose of this study was to identify RSS patients with UPD7 and determine whether or not they present phenotypic findings that distinguish them from RSS patients without UPD7. UPD7 testing was performed in 40 patients with unexplained growth retardation, including 21 patients with a diagnosis of RSS. In addition, a subset of patients was screened with markers spanning chromosome 7 to detect potential microdeletions or segmental uniparental disomy. Two of the RSS cases were identified to have maternal UPD7; no cases with deletion or partial UPD were detected. Together with previously published studies, UPD7 was identified in 11/120 (9%) of individuals with classical RSS phenotype. Our patients with UPD7 and those previously published had a classical RSS phenotype and were not clinically distinguishable from other children diagnosed with RSS.
Copyright 1999 Wiley-Liss, Inc.
Similar articles
-
[Uniparental disomy 7 in the pathogenesis of Silver-Russell syndrome].Orv Hetil. 2001 Jul 22;142(29):1561-4. Orv Hetil. 2001. PMID: 11494748 Hungarian.
-
Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation.Pediatrics. 2009 May;123(5):e929-31. doi: 10.1542/peds.2008-3228. Epub 2009 Apr 13. Pediatrics. 2009. PMID: 19364767
-
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.Birth Defects Res A Clin Mol Teratol. 2005 Aug;73(8):577-82. doi: 10.1002/bdra.20174. Birth Defects Res A Clin Mol Teratol. 2005. PMID: 16007591
-
Russell-Silver syndrome.Am J Med Genet C Semin Med Genet. 2010 Aug 15;154C(3):355-64. doi: 10.1002/ajmg.c.30274. Am J Med Genet C Semin Med Genet. 2010. PMID: 20803658 Review.
-
The genetic aetiology of Silver-Russell syndrome.J Med Genet. 2008 Apr;45(4):193-9. doi: 10.1136/jmg.2007.053017. Epub 2007 Dec 21. J Med Genet. 2008. PMID: 18156438 Review.
Cited by
-
The genetics of the Silver-Russell syndrome.Rev Endocr Metab Disord. 2002 Dec;3(4):369-79. doi: 10.1023/a:1020961909991. Rev Endocr Metab Disord. 2002. PMID: 12424439 Review. No abstract available.
-
A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region.Am J Hum Genet. 2001 Jan;68(1):247-53. doi: 10.1086/316937. Epub 2000 Dec 8. Am J Hum Genet. 2001. PMID: 11112662 Free PMC article.
-
Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions.J Med Genet. 2001 Dec;38(12):810-9. doi: 10.1136/jmg.38.12.810. J Med Genet. 2001. PMID: 11748303 Free PMC article. Review.
-
Isolated Hypomethylation of IGF2 Associated with Severe Hypoglycemia Responsive to Growth Hormone Treatment.Diagnostics (Basel). 2021 Apr 22;11(5):749. doi: 10.3390/diagnostics11050749. Diagnostics (Basel). 2021. PMID: 33922271 Free PMC article.
-
Russell-Silver Syndrome in a Nigerian infant with intrauterine growth retardation.J Natl Med Assoc. 2001 May;93(5):185-94. J Natl Med Assoc. 2001. PMID: 11405596 Free PMC article.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Medical