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Interstitial deletion of chromosome 11 (q22.3-q23.2) in a boy with mild developmental delay
  1. M Syrrou,
  2. J-P Fryns
  1. Centre for Human Genetics, University of Leuven, Herestraat 49, B-3000 Leuven, Belgium
  1. Professor Fryns Jean-Pierre.Fryns{at}

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Editor—Deletions of the terminal region of the long arm of chromosome 11 (bands 11q23.3-11q24) are associated with a clinically recognisable phenotype, also called Jacobsen syndrome (JS).1 Reports on more proximal 11q deletions are rare. This is the second report describing a de novo interstitial deletion of the 11q22.3-q23.2 region. The first described a de novo interstitial deletion of the 11q22.3-q23.2 region in a mildly retarded male with minor dysmorphic signs (high and narrow palate, low set, dysplastic ears, small hands and feet, and slender fingers) and epileptic seizures.2 However, no FISH studies were performed in this patient.

In this report we describe a small de novo interstitial deletion in the long arm of chromosome 11 (bands q22.3-q23.2) in a 2 year 8 month old boy with mild developmental delay and without major associated dysmorphic features or a clinically recognisable phenotype.

Case report

The proband, a boy, is the second and youngest child of healthy, non-consanguineous parents. His 5 year old sister is normal. Pregnancy and delivery, at 39 weeks, were normal. Birth weight was 3130 g, length 49 cm, and head circumference 33.5 cm. Clinical examination in the neonatal period was normal, apart from mild axial hypotonia. Motor development was slightly retarded and he walked without support at the age …

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