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  • Title: Deficiency of chromosome 8p21.1----8pter: case report and review of the literature.
    Author: Dobyns WB, Dewald GW, Carlson RO, Mair DD, Michels VV.
    Journal: Am J Med Genet; 1985 Sep; 22(1):125-34. PubMed ID: 3901750.
    Abstract:
    The clinical manifestations and cytogenetic changes of a patient with 46,XY,del(8)(p21.1) are compared with those of nine other patients with a similar deficiency of chromosome 8. Patients with this chromosome anomaly have a syndrome of postnatal growth retardation, microcephaly, mental retardation, epicanthal folds, posteriorly angulated and malformed ears, short neck, relatively increased internipple distance, and congenital heart defect. A short and broad nose, a wide and flat nasal bridge, and a small jaw are observed in young patients but tend to become less apparent with increasing age. In most instances, the syndrome has been associated with a de novo chromosome abnormality. Levels of glutathione reductase in our patient were normal-a finding consistent with localization of the gene coding for this enzyme to the proximal part of band 8p21.1 if gene dosage studies are reliable.
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