A microdeletion syndrome due to a 3-Mb deletion on 19q13.2 - Diamond-Blackfan anemia associated with macrocephaly, hypotonia, and psychomotor retardation

We report on a boy with congenital pure red blood cell aplasia [Diamond-Bla ckfan anemia (DBA)] and severe congenital hypotonia, macrocephaly, hypertel orism, a broad and tall forehead, medial epicanthus, and facial hypotonia w ith mouth-breathing and drooling, an affable and out-going personality, and a general psychomotor retardation. These features show similarity to the p henotype of the X-linked FG syndrome. DBA was diagnosed at the age of 4 mon ths, and the boy underwent treatment with transfusion and with prednisolone . He had a normal 46, XY karyotype, but fluorescence in situ hybridization (FISH) analysis to metaphase chromosomes revealed a 3-Mb deletion on 19q13. 2. This chromosomal region has previously been linked to the DBA phenotype and one 19q13 microdeletion has been identified in a patient with DBA. This deletion coincides with the deletion reported here. We suggest that the complex phenotype of our patient, including both DBA an d the associated features, represent a microdeletion syndrome.