TY - JOUR T1 - Neuronal migration defect in a <em>BRCA1</em> gene carrier: possible focal nullisomy? JF - Journal of Medical Genetics JO - J Med Genet SP - e24 LP - e24 DO - 10.1136/jmg.40.3.e24 VL - 40 IS - 3 AU - D M Eccles AU - S Barker AU - D T Pilz AU - C Kennedy Y1 - 2003/03/01 UR - http://jmg.bmj.com/content/40/3/e24.abstract N2 - 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 … ER -