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Title

A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia

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Published in European Journal of Medical Genetics. 2011, vol. 54, no. 1, p. 94-6
Abstract We report a de novo 12q13.11 deletion of 1.3 Mb in an 10-year-old dysmorphic girl with a multiple congenital anomalies/mental retardation (MCA/MR) syndrome consisting mainly of severe mental retardation, cleft palate, and high myopia. The deleted region encompasses 16 RefSeq genes. Among these, it is hypothesized that haploinsufficiency of AMIGO2 is potentially responsible for the mental retardation of this patient, and of COL2A1 for the cleft palate and high myopia.
Keywords Abnormalities, Multiple/genetics/pathologyChildChromosome DeletionChromosomes, Human, Pair 12/geneticsCleft Palate/pathologyComparative Genomic HybridizationFemaleHumansIntellectual Disability/pathologyMyopia/pathology
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PMID: 20933621
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Research group Pathologie Moléculaire de la Trisomie 21 et le Génome Humain (248)
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GIMELLI, Stefania et al. A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia. In: European Journal of Medical Genetics, 2011, vol. 54, n° 1, p. 94-6. https://archive-ouverte.unige.ch/unige:34667

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Deposited on : 2014-03-07

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