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Scientific article
English

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

ContributorsGimelli, Stefania; Makrythanasis, Periklis; Stouder, Christelle; Antonarakis, Stylianos; Bottani, Armand; Sloan Bena, Frédérique
Published inEuropean journal of medical genetics, vol. 54, no. 1, p. 94-96
Publication date2011
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/pathology
  • Child
  • Chromosome Deletion
  • Chromosomes, Human, Pair 12/genetics
  • Cleft Palate/pathology
  • Comparative Genomic Hybridization
  • Female
  • Humans
  • Intellectual Disability/pathology
  • Myopia/pathology
Affiliation entities
Research groups
Citation (ISO format)
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. 94–96. doi: 10.1016/j.ejmg.2010.09.008
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Article (Published version)
accessLevelRestricted
Identifiers
Journal ISSN1769-7212
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