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

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Abstract
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 35 cm (50th centile). At the age of 4 months, his weight, height, and head circumference were 6500 g, 62 cm, and 42.5 cm, respectively (50th centile). At the age of 20 months, his head circumference was 50.5 cm (>75th centile). Mild motor developmental delay was noticed from the 12th month; the child began to walk at 17 months. Evaluation at the age of 7 showed a generalised developmental delay with a patent discrepancy between development of speech and of the other areas. Difficulties in running and going down the stairs persisted, he could not ride a bicycle, and his manual ability was poor, but the clinical examination did not find any definite neurological syndrome. The language impairment was severe; he spoke his first words at the age of 6 and he constructed only simple sentences with difficulty at the time of examination. Behavioural problems were also noted, such as hyperactivity, short attention span, and aggressive outbursts. The only minor dysmorphic findings were a broad nasal bridge, long lashes, dental malocclusion, and a high arched palate (fig 1). Audiometry and EEG were normal.

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