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

Clin Genet. 1999 Jun;55(6):487-92. doi: 10.1034/j.1399-0004.1999.550616.x.


We report on a boy with congenital pure red blood cell aplasia [Diamond Blackfan anemia (DBA)] and severe congenital hypotonia, macrocephaly, hypertelorism, a broad and tall forehead, medial epicanthus, and facial hypotonia with mouth-breathing and drooling, an affable and out-going personality, and a general psychomotor retardation. These features show similarity to the phenotype of the X-linked FG syndrome. DBA was diagnosed at the age of 4 months, 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 and the associated features, represent a microdeletion syndrome.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Deletion*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 19*
  • Erythropoiesis
  • Fanconi Anemia / diagnostic imaging
  • Fanconi Anemia / genetics*
  • Fanconi Anemia / physiopathology
  • Humans
  • Hypertelorism / etiology
  • Infant
  • Intellectual Disability / etiology
  • Male
  • Psychomotor Disorders / etiology
  • Radiography
  • Syndrome