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Neuronal migration defect in a BRCA1 gene carrier: possible focal nullisomy?
  1. D M Eccles1,
  2. S Barker2,
  3. D T Pilz3,
  4. C Kennedy4
  1. 1Wessex Clinical Genetics Service, Princess Anne Hospital, Coxford Road, Southampton SO16 5YA, UK
  2. 2Wessex Neurological Centre, Southampton General Hospital, Tremona Road, Southampton SO16 5HA, UK
  3. 3Institute for Medical Genetics, University Hospital of Wales, Heath Park, Cardiff CF14 4XW, UK
  4. 4Paediatric Neurology, Child Health, Southampton General Hospital, Southampton, UK
  1. Correspondence to:
 Dr D M Eccles, Wessex Clinical Genetics Service, Princess Anne Hospital, Coxford Road, Southampton SO16 5YA, UK;

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A BRCA1 5382insC mutation was identified in a family with multiple cases of breast and ovarian cancer and eastern European ancestry. Predictive genetic testing was offered to all family members after standard genetic counselling within the regional clinical genetics service.


An adult male presented to the clinical genetics service for predictive testing. His past medical history was complex. He was the second of twins, born at term (36 weeks) following an uncomplicated pregnancy, and weighed 2300 g. His early development did not cause any concern, but when he achieved independent walking at 18 months, this was slow and awkward. He was noted to have a mild left hemiparesis, the cause of which was not clarified until later. He had no major illnesses as a child and attended normal school with average achievements, although he did less well than his twin sister. At 12 years of age he presented with focal left sided seizures and a CT brain scan showed underdevelopment of the right cerebral hemisphere and hypoplasia of the wing …

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