title: A microdeletion syndrome due to a 3-Mb deletion on 19q13.2--Diamond-Blackfan anemia associated with macrocephaly, hypotonia, and psychomotor retardation.
abstract: 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.
authors.affiliation: Department of Pediatrics, University Children's Hospital Ulm, Germany. holger.cario@medizin.uni-ulm.de
authors.forename: H
authors.initials: H
authors.lastname: Cario
authors.forename: H
authors.initials: H
authors.lastname: Bode
authors.forename: P
authors.initials: P
authors.lastname: Gustavsson
authors.forename: N
authors.initials: N
authors.lastname: Dahl
authors.forename: E
authors.initials: E
authors.lastname: Kohne
mesh_terms: D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19; D004920:Erythropoiesis; D005199:Fanconi Anemia / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D006972:Hypertelorism / Q000209:etiology; D007223:Infant; D008607:Intellectual Disability / Q000209:etiology; D008297:Male; D011596:Psychomotor Disorders / Q000209:etiology; D011859:Radiography; D013577:Syndrome