A microdeletion syndrome due to a 3-Mb deletion on 19q13.2--Diamond-Blackfan anemia associated with macrocephaly, hypotonia, and psychomotor retardation
1999 (English)In: Clinical Genetics, ISSN 0009-9163, Vol. 55, no 6, 487-92 p.Article in journal (Refereed) Published
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.
Place, publisher, year, edition, pages
1999. Vol. 55, no 6, 487-92 p.
chromosome 19q13, Diamond–Blackfan anemia, erythropoiesis, FG syndrome, hypotonia, X-linked mental retardation
Medical and Health Sciences
IdentifiersURN: urn:nbn:se:uu:diva-51340DOI: 10.1034/j.1399-0004.1999.550616.xPubMedID: 10450869OAI: oai:DiVA.org:uu-51340DiVA: diva2:79249