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  • Title: Deletion of a portion of the long arm of chromosome 6.
    Author: Goldberg R, Fish B, Ship A, Shprintzen RJ.
    Journal: Am J Med Genet; 1980; 5(1):73-80. PubMed ID: 7395903.
    Abstract:
    We describe a 3-year-old male with deletion of part of 6q. The karyotype was 46,XY,del(6q) in both lymphocytes and skin fibroblasts. The patient had: frontal bossing, epicanthal folds, broad nasal bridge, apparently low-set and posteriorly angulated ears, micrognathia, cardiac defects, cleft palate, unusual digital anomalies, developmental retardation, and obstructive sleep apnea.
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