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J Med Genet 38:493-496 doi:10.1136/jmg.38.7.493
  • Letters to the editor

Chromosome 2 interstitial deletion (del(2)(q14.1q21)) associated with connective tissue laxity and an attention deficit disorder

  1. K L Bakera,
  2. M I Reesb,c,
  3. P W Thompsona,
  4. R T Howelld,
  5. T R Colee,
  6. H E Hughesa,
  7. M Upadhyayaa,
  8. D Ravinea
  1. aMedical Genetics Service for Wales, University Hospital of Wales, Heath Park, Cardiff CF4 4XW, UK, bDepartment of Psychological Medicine and Medical Genetics, University of Wales College of Medicine, Cardiff, UK, cDepartment of Molecular Medicine, University of Auckland, Private Bag 92019, Auckland, New Zealand, dRegional Cytogenetics Centre, Southmead Hospital, Bristol, UK, eWest Midlands Regional Clinical Genetics Service, Birmingham, UK
  1. Dr Ravine ravine{at}cardiff.ac.uk

    Editor—Reports of interstitial deletions involving the long arm of chromosome 2 are uncommon.1-10 Among these, there are only four which involve the region q14q21. We report a further case with a paternally derived de novo interstitial deletion of chromosome 2q14.1q21.

    Case report

    The proband was a male born by spontaneous vaginal delivery at term following an uneventful pregnancy. The parents are healthy, unrelated, and white. Birth weight was 4140 g (97th centile). Early childhood was complicated by hypotonia and recurrent sleep apnoea which resolved following adenoidectomy at 2 years of age. Otherwise, his medical history showed the normal range of intercurrent childhood viral illnesses. While childhood linear growth was rapid, during the second year there was considerable concern about poor weight gain. At 6 years of age he was noted to have a high, bossed forehead with a large head circumference (90-97th centile). A thoracolumbar kyphoscoliosis and a mild sternal depression was noted. He attended normal school although moderate learning difficulties were experienced. An attention deficit defect was identified and managed with the aid of methylphenidate hydrochloride. At 15 years of age, he was tall and thin (height 176 cm, 80th centile; weight 43.3 kg, 5th centile) with an associated moderate thoracolumbar kyphoscoliosis and pectus carinatum deformity. While the upper segment:lower segment ratio was 0.804, it was apparent that spinal height was somewhat reduced by the curvature of the scoliosis. The span measurement was 175 cm and head circumference was 56.0 cm (60th centile). He was a generally thinly muscled adolescent with little subcutaneous tissue. Some mild proximal upper limb weakness was detected and winging of the scapulae was evident, particularly on the right side. Examination of the musculature around the scapulae showed that the trapezius muscles were absent or possibly extremely hypoplastic. Ophthalmic examination showed normal fundi with no …