Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome
Autor: | Bregje W.M. van Bon, Tiia Reimand, Berten Ceulemans, Barbara Delle Chiaie, Christine Oley, Anne Destree, Ernie M.H.F. Bongers, Danielle Martinet, Dom McMullan, Rolph Pfund, Bert B.A. de Vries, Jenneke van den Ende, Louise Brueton, Connie Schrander-Stumpel, Corrado Romano, Marco Fichera, Alexander P.A. Stegmann, Edwin Reyniers, Geert Mortier, Suzanna G.M. Frints, Isabelle Maystadt, Katrin Männik, Nathalie Van der Aa, Ants Kurg, Geert Vandeweyer, Björn Menten, Alessandra Ferrarini, R. Frank Kooy, Sébastien Jacquemont, Liesbeth Rooms |
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Rok vydání: | 2009 |
Předmět: |
Male
Williams Syndrome congenital hereditary and neonatal diseases and abnormalities Pediatrics medicine.medical_specialty Language delay Population Chromosome Disorders Speech Disorders Genomic disorders and inherited multi-system disorders [IGMD 3] Communication disorder Intellectual Disability Gene duplication Genetics medicine Humans Abnormalities Multiple Diaphragmatic hernia Child education Genetics (clinical) Family Health education.field_of_study business.industry Infant Syndrome General Medicine medicine.disease Hypotonia Phenotype Child Preschool Face Speech delay Autism Female Human medicine Chromosome Deletion medicine.symptom business Chromosomes Human Pair 7 |
Zdroj: | European Journal of Medical Genetics, 52, 2-3, pp. 94-100 European journal of medical genetics European Journal of Medical Genetics, 52, 94-100 |
ISSN: | 1769-7212 |
Popis: | Contains fulltext : 80644.pdf (Publisher’s version ) (Closed access) 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. |
Databáze: | OpenAIRE |
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