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A microdeletion syn...
A microdeletion syndrome due to a 3-Mb deletion on 19q13.2--Diamond-Blackfan anemia associated with macrocephaly, hypotonia, and psychomotor retardation
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Cario, Holger (författare)
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Bode, H. (författare)
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- Gustavsson, P. (författare)
- Uppsala universitet,Institutionen för genetik och patologi,Clin Mol Genet
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- Dahl, Niklas (författare)
- Uppsala universitet,Institutionen för genetik och patologi,Clin Mol Genet
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Kohne, E. (författare)
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(creator_code:org_t)
- 2001-12-24
- 1999
- Engelska.
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Ingår i: Clinical Genetics. - : Wiley. - 0009-9163 .- 1399-0004. ; 55:6, s. 487-92
- Relaterad länk:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- 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.
Nyckelord
- chromosome 19q13
- Diamond–Blackfan anemia
- erythropoiesis
- FG syndrome
- hypotonia
- X-linked mental retardation
- MEDICINE
- MEDICIN
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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