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Deletion of a portion of the long arm of chromosome 6

✍ Scribed by Goldberg, Rosalie ;Fish, Bernard ;Ship, Arthur ;Shprintzen, Robert J.

Publisher: John Wiley and Sons
Year: 1980
Tongue: English
Weight: 333 KB
Volume: 5
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320050110

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✦ Synopsis

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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