Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome
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- 作者：Nathalie Van der Aa ; Liesbeth Rooms ; Geert V ; eweyer ; Jenneke van den Ende ; Edwin Reyniers ; Marco Fichera ; Corrado Romano ; Barbara Delle Chiaie ; Geert Mortier ; Bjö ; rn Menten ; Anne Destré ; e ; Isabelle Maystadt ; Katrin Mä ; nnik ; Ants Kurg ; Tiia Reim ; Dom McMullan ; Christine Oley ; Louise Brue
- 关键词：7q11.23 microduplication ; Clinical phenotype ; Language delay ; Recognizable face
- 刊名：European Journal of Medical Genetics
- 出版年：2009
- 出版时间：March-June 2009
- 年：2009
- 卷：52
- 期：2-3
- 页码：94-100
- 全文大小：323 K
文摘
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.