Deficiency of chromosome 8p21.1→8pter: Case report and review of the literature

W. B. Dobyns, G. W. Dewald, R. O. Carlson, D. D. Mair, V. V. Michels

Research output: Contribution to journalReview articlepeer-review

27 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)125-134
Number of pages10
JournalAmerican Journal of Medical Genetics
Volume22
Issue number1
DOIs
StatePublished - 1985
Externally publishedYes

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