Chromosome 15q25 Deletion Syndrome

To the best of the author’s knowledge, Wagenstaller and collaborators described the first report of 15q25.2 deletion syndrome in an affected female child. The patient represented a few slight dysmorphic manifestations and was found to be influenced by intrauterine growth retardation. The patient developed polysplenia, psychomotor retardation, and a hypoproliferative, macrocytic anemia since the first year of her life, undergoing blood transfusions by 4th year of age, and a diagnosis of Diamond-Blackfan anemia (DBA) was eventually made (Wagenstaller et al. 2007).