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A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett‐like features by Filomena Tiziana Papa; Maria Antonietta Mencarelli; Rossella Caselli; Eleni Katzaki; Katia Sampieri; Ilaria Meloni; Francesca Ariani; Ilaria Longo; Angela Maggio; Paolo Balestri; Salvatore Grosso; Maria Angela Farnetani; Rosario Berardi; Francesca Mari; Alessandra Renieri is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
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## Abstract The present report describes a 7‐year‐old girl with a de novo 3 Mb interstitial deletion of chromosome 14q12, identified by oligo array‐CGH. The region is gene poor and contains only five genes two of them, __FOXG1B__ and __PRKD1__ being deleted also in a previously reported case with a very similar phenotype. Both patients present prominent metopic suture, epicanthic folds, bulbous nasal tip, tented upper lip, everted lower lip and large ears and a clinical course like Rett syndrome, including normal perinatal period, postnatal microcephaly, seizures, and severe mental retardation. __FOXG1B__ (forkhead box G1B) is a very intriguing candidate gene since it is known to promote neuronal progenitor proliferation and to suppress premature neurogenesis and its disruption is reported in a patient with postnatal microcephaly, corpus callosum agenesis, seizures, and severe mental retardation. © 2008 Wiley‐Liss, Inc.
Who reads A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett‐like features?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- Filomena Tiziana Papa; Maria Antonietta Mencarelli; Rossella Caselli; Eleni Katzaki; Katia Sampieri; Ilaria Meloni; Francesca Ariani; Ilaria Longo; Angela Maggio; Paolo Balestri; Salvatore Grosso; Maria Angela Farnetani; Rosario Berardi; Francesca Mari; Alessandra Renieri
- Publisher
- John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 1552-4825)
- Published
- 2008
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)