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Distal trisomy 2p and arachnodactyly
  1. D J STALKER*,
  4. P W LUNT*
  1. *Department of Clinical Genetics, Institute of Child Health, Royal Hospital for Sick Children, St Michael's Hill, Bristol BS2 8BJ, UK
  2. †Department of Cytogenetics, Southmead General Hospital, Westbury-on-Trym, Bristol BS10 5NB, UK
  3. ‡Department of Paediatric Neurology, Royal Hospital for Sick Children, St Michael's Hill, Bristol BS2 8BJ, UK
  1. Dr Stalker, Post Office Cottage, Compton Road, Hilmarton, Calne, Wilts SN11 8SG, UK,drdeb{at}

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Editor—We report two sibs with an unbalanced translocation of chromosomes 2 and 10 resulting in distal 2p trisomy. We feel that this sib pair could help to delineate the common features that may result from duplication of this specific region, in particular to show that arachnodactyly is a key feature. We suggest that the combination of arachnodactyly with developmental delay should prompt investigation of this region within the differential diagnosis.

This sib pair was first seen in 1995 aged 8 years (male) and 11 years (female). They were referred with a combination of speech and language delay, poor coordination, and concordant dysmorphic features.

The male sib (fig 1) was born at 38 weeks' gestation weighing 3200 g (25th centile). He was noted to have gross motor delay with hypotonia and walked at 22 months. Speech development was severely delayed necessitating Makaton from the age of 2 years. He attended a school for moderate learning difficulties and required intensive speech therapy. His motor development is still delayed and at the age of 11, he cannot ride a bicycle, catch a ball, or fasten shoe laces. He continues to require considerable supplemental educational input and speech therapy.

Figure 1

Male sib aged 8 years showing facial dysmorphism and arachnodactyly.

His height has followed the 90th centile with weight between the 25th and 50th centile and head circumference on the 50th. There is no limb or body segment disproportion. Joint flexibility is normal. He has arachnodactyly (palm length 10.5 cm (75th centile), middle finger length 8.0 …

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