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Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver-Russell syndrome.
Ghanim, Mustafa; Rossignol, Sylvie; Delobel, Bruno; Irving, Melita; Miller, Owen; Devisme, Louise; Plennevaux, Jean-Louis; Lucidarme-Rossi, Sophie; Manouvrier, Sylvie; Salah, Azzi; Chivu, Olimpia; Netchine, Irène; Vincent-Delorme, Catherine.
Afiliação
  • Ghanim M; Centre de Référence Anomalies du Développement et Syndromes Malformatifs Nord de France, CHRU Lille, France. mustafa.ghanim@najah.edu
Am J Med Genet A ; 161A(3): 572-7, 2013 Mar.
Article em En | MEDLINE | ID: mdl-23401077
Silver-Russell syndrome (SRS) is characterized by pre- and post-natal growth restriction that spares head growth, feeding difficulties, and variable dysmorphic facial features without major malformations. Hypomethylation of the paternal 11p15 imprinting control region 1 (ICR1) and maternal uniparental disomy of chromosome 7 are found in 50-60% and in 5-10% of SRS patients, respectively. We report on the pre- and post-natal features of three unrelated SRS patients with unusual congenital heart defects (CHDs). Two patients born prematurely had total anomalous pulmonary venous return and died shortly after birth, and a third patient, now 4 years old, had cor triatriatum sinistrum, which was surgically corrected. In all three patients, the underlying molecular defect was 11p15 ICR1 hypomethylation. Based on a large cohort with molecularly proven SRS, the prevalence of CHD in SRS is estimated at 5.5%. We suggest that the occurrence of CHD in SRS with 11p15 ICR1 hypomethylation is not coincidental, but specific to this genotype.
Assuntos

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Cromossomos Humanos Par 11 / Síndrome de Silver-Russell / Cardiopatias Congênitas Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Female / Humans / Male / Newborn Idioma: En Ano de publicação: 2013 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Cromossomos Humanos Par 11 / Síndrome de Silver-Russell / Cardiopatias Congênitas Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Female / Humans / Male / Newborn Idioma: En Ano de publicação: 2013 Tipo de documento: Article