Neuronal migration defect in a BRCA1 gene carrier: possible focal nullisomy?

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Neuronal migration defect in a BRCA1 gene carrier: possible focal nullisomy?

CASE REPORT 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 mi...

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Previously we described a BRCA1 carrier with a neuronal migration defect and postulated that the brain abnormality was caused by functional nullisomy for BRCA1. We now describe another family in which a similar type of neuronal migration defect has occurred in one of female identical twins with a BRCA1 gene mutation (MIM 113705). One twin developed unusually early onset multiple primary breast ...

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ژورنال

عنوان ژورنال: Journal of Medical Genetics

سال: 2003

ISSN: 1468-6244

DOI: 10.1136/jmg.40.3.e24