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The facial dysmorphy in the newly recognised microdeletion 2p15–p16.1 refined to a 570 kb region in 2p15
  1. E Chabchoub1,
  2. J R Vermeesch1,
  3. T de Ravel1,
  4. P de Cock2,
  5. J-P Fryns1
  1. 1
    Centre for Human Genetics, Leuven, Belgium
  2. 2
    Department of Neuropaediatrics, University Hospital Gasthuisberg, Leuven, Belgium
  1. Prof Dr J-P Fryns, Centre for Human Genetics, Herestraat 49, 3000 Leuven, Belgium; Jean-Pierre.Fryns{at}med.kuleuven.be

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In this journal, Rajcan-Separovic et al1 characterised a new microdeletion syndrome involving chromosome 2p15–16.1 in two patients with an autistic disorder (AD) and multiple congenital anomalies (MCA) with recognisable dysmorphic features. While screening for genomic copy number variations with a 1 Mb resolution bacterial artificial chromosome (BAC) array-based comparative genomic hybridisation (aCGH) in patients referred for the aetiological diagnosis of mental retardation and MCA (MR/MCA), a 570 kb de novo microdeletion at 2p15 was detected. We compare our findings with those of Rajcan-Separovic et al1 and we discuss the phenotype–genotype correlations.

The patient is a 16-year-old boy born to healthy and non-consanguineous Belgian parents.

He was first referred at the age of 9½ years (fig 1A) for school difficulties secondary to mild mental retardation (IQ of 50), MCA with ectomorphic habitus (height 147 cm (>P97), weight 25.7 kg (P3) and a normal occipito-frontal circumference of 54.2 cm). He has characteristic dysmorphic features including high forehead, fine hair, telecanthus, antimongoloïd palpebral fissures, large ears, broad and high nasal root with prominent tip, high palate with nasal speech, everted lower lip, long fingers, pectus excavatum, kyphoscoliosis (>20°), congenital heart defect consisting of a bicuspid aortic valve with mild aortic valve insufficiency without stenosis and a prolapsed mitral valve with a first grade mitral …

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