Literature DB >> 1633648

Severe Silver-Russell syndrome and translocation (17;20) (q25;q13)

M L Ramírez-Dueñas1, C Medina, R Ocampo-Campos, H Rivera.   

Abstract

An 8-year-8-month-old girl with Silver-Russell syndrome (SRS) and a paternally inherited balanced t(17;20)(q25;q13) is described. This observation suggests that an SRS gene(s) maps on chromosome 17 or 20 and that the patient phenotype resulted from either unmasking of heterozygosity or genomic imprinting via paternal disomy.

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Mesh：

Year:  1992        PMID： 1633648     DOI： 10.1111/j.1399-0004.1992.tb03630.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  11 in total

Review 1.  Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions.

Authors:  M P Hitchins; P Stanier; M A Preece; G E Moore
Journal:  J Med Genet       Date:  2001-12       Impact factor: 6.318

Review 2.  The genetics of the Silver-Russell syndrome.

Authors:  Michael A Preece
Journal:  Rev Endocr Metab Disord       Date:  2002-12       Impact factor: 6.514

3.  Diagnostic proceeding in Silver-Russell syndrome.

Authors:  Thomas Eggermann; Esther Meyer; Michael B Ranke; Martin Holder; Stefanie Spranger; Klaus Zerres; Hartmut A Wollmann
Journal:  Mol Diagn       Date:  2005

4.  Hypomethylation in the 11p15 telomeric imprinting domain in a patient with Silver-Russell syndrome with a CSH1 deletion (17q24) renders a functional role of this alteration unlikely.

Authors:  Thomas Eggermann; Nadine Schönherr; Katja Eggermann; Hartmut Wollmann
Journal:  J Med Genet       Date:  2007-04       Impact factor: 6.318

5.  Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype.

Authors:  Jet Bliek; Paulien Terhal; Marie-José van den Bogaard; Saskia Maas; Ben Hamel; Georgette Salieb-Beugelaar; Marleen Simon; Tom Letteboer; Jasper van der Smagt; Hester Kroes; Marcel Mannens
Journal:  Am J Hum Genet       Date:  2006-03-01       Impact factor: 11.025

6.  Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome.

Authors:  H Yoshihashi; K Maeyama; R Kosaki; T Ogata; M Tsukahara; Y Goto; J Hata; N Matsuo; R J Smith; K Kosaki
Journal:  Am J Hum Genet       Date:  2000-06-12       Impact factor: 11.025

7.  Glanzmann thrombasthenia. Cooperation between sequence variants in cis during splice site selection.

Authors:  Y Jin; H C Dietz; R A Montgomery; W R Bell; I McIntosh; B Coller; P F Bray
Journal:  J Clin Invest       Date:  1996-10-15       Impact factor: 14.808

Review 8.  Silver-Russell syndrome: genetic basis and molecular genetic testing.

Authors:  Thomas Eggermann; Matthias Begemann; Gerhard Binder; Sabrina Spengler
Journal:  Orphanet J Rare Dis       Date:  2010-06-23       Impact factor: 4.123

9.  Paternally inherited deletion of CSH1 in a patient with Silver-Russell syndrome.

Authors:  T Eggermann; K Eggermann; S Mergenthaler; R Kuner; P Kaiser; M B Ranke; H A Wollmann
Journal:  J Med Genet       Date:  1998-09       Impact factor: 6.318

Review 10.  Primordial dwarfism: overview of clinical and genetic aspects.

Authors:  Preeti Khetarpal; Satrupa Das; Inusha Panigrahi; Anjana Munshi
Journal:  Mol Genet Genomics       Date:  2015-09-01       Impact factor: 3.291
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