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Description

In this episode we will hear from Bethan who’s daughter Florence has been diagnosed with Mosaic trisomy 8, a chromosomal abnormality that can affect many parts of the body. In individuals with mosaic trisomy 8, some of the body's cells have three copies of chromosome 8 (trisomy), while other cells have the usual two copies of this chromosome. Children with trisomy 8 mosaicism have a characteristic and recognisable pattern of developmental abnormalities which can include moderate to severe learning difficulties, variable growth patterns and many musculoskeletal, visceral, and eye abnormalities.