## Abstract A review of the 17 previously reported cases of duplication 3p and study of a new patient who has a duplication of the chromosome segment 3p21βpter show a remarkably consistent phenotype among these patients and suggest some generalizations about prognosis. The manifestations include lo
Electroclinical pattern in MECP2 duplication syndrome: Eight new reported cases and review of literature
β Scribed by Aglaia Vignoli; Renato Borgatti; Angela Peron; Claudio Zucca; Lucia Ballarati; Clara Bonaglia; Melissa Bellini; Lucio Giordano; Romina Romaniello; Maria Francesca Bedeschi; Roberta Epifanio; Silvia Russo; Rossella Caselli; Daniela Giardino; Francesca Darra; Francesca La Briola; Giuseppe Banderali; Maria Paola Canevini
- Book ID
- 114748341
- Publisher
- Wiley (Blackwell Publishing)
- Year
- 2012
- Tongue
- English
- Weight
- 859 KB
- Volume
- 53
- Category
- Article
- ISSN
- 0013-9580
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π SIMILAR VOLUMES
## Communicated by Garry Cutting Mutations in the X-linked methyl-CpG-binding protein 2 gene (MECP2) are found in 70-80% of cases of classical Rett syndrome (RTT) and in about 50% of cases of preserved speech variant (PSV). This high percentage of MECP2 mutations, especially in classical RTT cases