It is less clear whether the learning difficulty and speech impairment are part of the PALB2 syndrome in this family, because of their occurrence in other family members without biallelic mutation of PALB2. Most strikingly, these sisters did not present in infancy with the much more severe developmental features and embryonal type tumours associated with biallelic truncating mutations of PALB2 or, indeed, biallelic truncating mutation of BRCA2. However, the sisters shared the Fanconi anaemia patient characteristic of small size. The gene discussed is BRCA2; the disease is Fanconi anemia.