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A microdeletion syndrome due to a 3-Mb deletion on 19q13.2--Diamond-Blackfan anemia associated with macrocephaly, hypotonia, and psychomotor retardation
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology. (Clin Mol Genet)
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology. (Clin Mol Genet)
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1999 (English)In: Clinical Genetics, ISSN 0009-9163, E-ISSN 1399-0004, Vol. 55, no 6, 487-92 p.Article in journal (Refereed) Published
Abstract [en]

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.
Keyword [en]
chromosome 19q13, Diamond–Blackfan anemia, erythropoiesis, FG syndrome, hypotonia, X-linked mental retardation
National Category
Medical and Health Sciences
Identifiers
URN: urn:nbn:se:uu:diva-51340DOI: 10.1034/j.1399-0004.1999.550616.xPubMedID: 10450869OAI: oai:DiVA.org:uu-51340DiVA: diva2:79249
Available from: 2008-10-17 Created: 2008-10-17 Last updated: 2017-12-04Bibliographically approved

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