Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

Nathalie Van der Aa, Liesbeth Rooms, Geert Vandeweyer, Jenneke van den Ende, Edwin Reyniers, Marco Fichera, Corrado Romano, Barbara Delle Chiaie, Geert Mortier, Björn Menten, Anne Destrée, Isabelle Maystadt, Katrin Männik, Ants Kurg, Tiia Reimand, Dom McMullan, Christine Oley, Louise Brueton, Ernie M H F Bongers, Bregje W M van BonRolph Pfund, Sebastien Jacquemont, Alessandra Ferrarini, Danielle Martinet, Connie Schrander-Stumpel, Alexander P A Stegmann, Suzanna G M Frints, Bert B A de Vries, Berten Ceulemans, R. Frank Kooy

Research output: Contribution to journalArticle

Abstract

Interstitial deletions of 7q11.23 cause Williams-Beuren syndrome, one of the best characterized microdeletion syndromes. The clinical phenotype associated with the reciprocal duplication however is not well defined, though speech delay is often mentioned. We present 14 new 7q11.23 patients with the reciprocal duplication of the Williams-Beuren syndrome critical region, nine familial and five de novo. These were identified by either array-based MLPA or by array-CGH/oligonucleotide analysis in a series of patients with idiopathic mental retardation with an estimated population frequency of 1:13,000-1:20,000. Variable speech delay is a constant finding in our patient group, confirming previous reports. Cognitive abilities range from normal to moderate mental retardation. The association with autism is present in five patients and in one father who also carries the duplication. There is an increased incidence of hypotonia and congenital anomalies: heart defects (PDA), diaphragmatic hernia, cryptorchidism and non-specific brain abnormalities on MRI. Specific dysmorphic features were noted in our patients, including a short philtrum, thin lips and straight eyebrows. Our patient collection demonstrates that the 7q11.23 microduplication not only causes language delay, but is also associated with congenital anomalies and a recognizable face.

Original languageEnglish
Pages (from-to)94-100
Number of pages7
JournalEuropean Journal of Medical Genetics
Volume52
Issue number2-3
DOIs
Publication statusPublished - Mar 2009

Keywords

  • 7q11.23 microduplication
  • Clinical phenotype
  • Language delay
  • Recognizable face

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Van der Aa, N., Rooms, L., Vandeweyer, G., van den Ende, J., Reyniers, E., Fichera, M., Romano, C., Delle Chiaie, B., Mortier, G., Menten, B., Destrée, A., Maystadt, I., Männik, K., Kurg, A., Reimand, T., McMullan, D., Oley, C., Brueton, L., Bongers, E. M. H. F., ... Kooy, R. F. (2009). Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome. European Journal of Medical Genetics, 52(2-3), 94-100. https://doi.org/10.1016/j.ejmg.2009.02.006