J Med Genet 39:e17 doi:10.1136/jmg.39.4.e17
  • Electronic letters

Molecular characterisation of a ring chromosome 22 in a patient with severe language delay: a contribution to the refinement of the subtelomeric 22q deletion syndrome

  1. P De Mas1,
  2. N Chassaing1,
  3. Y Chaix2,
  4. M-C Vincent1,
  5. S Julia1,
  6. G Bourrouillou1,
  7. P Calvas1,
  8. E Bieth1
  1. 1Ho⁁pital Purpan, Service de Génétique Médicale, Toulouse, France
  2. 2Hocarret;pital des Enfants, Service de Neurologie, Toulouse, France
  1. Correspondence to:
 Dr E Bieth, Ho⁁pital Purpan, Service de Génétique Médicale, Place du Docteur Baylac, 31059 Toulouse, France;

    The common clinical features reported in ring chromosome 22 cases include overall developmental delay with severe speech disability, growth retardation with frequently associated microcephaly, hypotonia, and dysmorphic traits, such as epicanthus, normally placed but large and dysplastic ears, long eyelashes with full eyebrows, and occasionally high arched palate, dental malocclusion, and mild hypertelorism.1–9 Second and third toe syndactyly, unsteady gait, hyperactivity, aggressive behaviour, autistic disorders,3, 4 and seizures or abnormal EEG1, 2 have also been reported. The recently described subtelomeric 22q deletion syndrome showed overlapping clinical features with a generalised developmental delay, particularly severe in the area of expressive speech.10–14 The phenotype is usually more severe in cases of ring chromosome 22 compared with subtelomeric 22q deletions. The phenotypic differences, particularly the growth retardation with microcephaly and the severe mental delay, could be the result of a larger deletion size in ring chromosome 22 cases. We report the molecular cytogenetic analysis of a ring chromosome 22 in a young boy investigated for global development and severe speech delay. This is the first molecular analysis of a ring chromosome 22 harbouring the second smallest 22qter microdeletion reported so far. Characteristics of cases with ring chromosome 22 and subtelomeric 22q deletion are reviewed.


    Case report

    The patient, a 7 year old boy, was seen for evaluation of global developmental delay. He was born to healthy, non-consanguineous parents aged 35 (mother) and 39 (father) years. His two older sisters were normal. Pregnancy, delivery, and the neonatal period were uneventful. His birth weight was 3330 g (50th centile), length was 50 cm (25th centile), and head circumference was …