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Prenatal phenotype of 22q11 micro-duplications: A systematic review and report on 12 new cases.
Mary, Laura; Lavillaureix, Alinoë; Perrot, Adélie; Loget, Philippe; Launay, Erika; Leborgne, Anne-Sophie; Demurger, Florence; Fradin, Mélanie; Le Bouar, Gwenaelle; Quélin, Chloé; Dubourg, Christèle; Pasquier, Laurent; Odent, Sylvie; Belaud-Rotureau, Marc-Antoine; Jaillard, Sylvie.
Afiliação
  • Mary L; Service de Cytogénétique et Biologie Cellulaire, CHU Rennes, Rennes, France; INSERM, EHESP, IRSET - UMR_S, 1085, Université Rennes 1, Rennes, France. Electronic address: laura.mary@chu-rennes.fr.
  • Lavillaureix A; Service de Génétique Clinique, CHU Rennes, CLAD Ouest, Rennes, France; ERN ITHACA, Hôpital Sud Rennes France, Université de Rennes, CNRS, IGDR, UMR 6290, F-35000, Rennes, France.
  • Perrot A; Service de Cytogénétique et Biologie Cellulaire, CHU Rennes, Rennes, France.
  • Loget P; Service d'Anatomie Pathologique, Hôpital Pontchaillou, CHU Rennes, Rennes, France.
  • Launay E; Service de Cytogénétique et Biologie Cellulaire, CHU Rennes, Rennes, France.
  • Leborgne AS; Service de Cardiologie, Clinique de La Sagesse, Rennes, France.
  • Demurger F; Service de Génétique Médicale, CHBA Vannes, France.
  • Fradin M; Service de Génétique Clinique, CHU Rennes, CLAD Ouest, Rennes, France.
  • Le Bouar G; Unité de Médecine fœtale, Service de Gynécologie-Obstétrique, CHU Rennes, Rennes, France.
  • Quélin C; Service de Génétique Clinique, CHU Rennes, CLAD Ouest, Rennes, France; Service d'Anatomie Pathologique, Hôpital Pontchaillou, CHU Rennes, Rennes, France.
  • Dubourg C; Laboratoire de Génétique Moléculaire et Génomique, Centre Hospitalier Universitaire de Rennes, Rennes, 35033, France.
  • Pasquier L; Service de Génétique Clinique, CHU Rennes, CLAD Ouest, Rennes, France; ERN ITHACA, Hôpital Sud Rennes France, Université de Rennes, CNRS, IGDR, UMR 6290, F-35000, Rennes, France.
  • Odent S; Service de Génétique Clinique, CHU Rennes, CLAD Ouest, Rennes, France; ERN ITHACA, Hôpital Sud Rennes France, Université de Rennes, CNRS, IGDR, UMR 6290, F-35000, Rennes, France.
  • Belaud-Rotureau MA; Service de Cytogénétique et Biologie Cellulaire, CHU Rennes, Rennes, France; INSERM, EHESP, IRSET - UMR_S, 1085, Université Rennes 1, Rennes, France.
  • Jaillard S; Service de Cytogénétique et Biologie Cellulaire, CHU Rennes, Rennes, France; INSERM, EHESP, IRSET - UMR_S, 1085, Université Rennes 1, Rennes, France.
Eur J Med Genet ; 65(2): 104422, 2022 Feb.
Article em En | MEDLINE | ID: mdl-35026468
The 22q11 region is prone to generating recurring Copy Number Variations (CNVs) as a result of the large numbers of Low Copy Repeats (LCRs). Typical duplications encompass the LCR-A-to-D region but atypical duplications of various sizes have also been reported. These duplications are responsible for highly variable phenotypes with incomplete penetrance and expressivity, which is challenging for adequate genetic counselling, especially in the prenatal period. To better delineate prenatal phenotypes associated with these CNVs, we report here a clinical and molecular description of twelve cases (9 foetuses and 3 deceased new-borns babies) carrying recurrent 22q11 duplications (diagnosed via aCGH), along with a review of the existing literature. 22q11 duplications were inherited from an apparently healthy parent in almost 60% of the cases. Other CNVs were diagnosed for 8% of the cases. Increased nuchal translucency and cardiac anomalies (CHD) were the most prominent phenotypes observed, along with mild renal and skeletal anomalies. Duplications encompassing the LCR-C-to-D region (and the CRKL gene) seemed more likely to generate CHDs and renal malformations. Cleft lip/palate were observed in foetuses with duplications encompassing the LCR-A-to-B region or the SPECC1L gene, as previously suggested. However, genotype-phenotype correlations remain difficult to ascertain. Second-hit point variants, epigenetic or environmental variations could play a role in the phenotypic variability of 22q11 duplications, but remain a challenge for assessment in the short period of pregnancy.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Anormalidades Múltiplas / Síndrome de DiGeorge / Duplicação Cromossômica / Feto Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Anormalidades Múltiplas / Síndrome de DiGeorge / Duplicação Cromossômica / Feto Idioma: En Ano de publicação: 2022 Tipo de documento: Article