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A subterminal deletion of the long arm of chromosome 10: A clinical report and review

✍ Scribed by Winnie Courtens; Wim Wuyts; Liesbeth Rooms; Sarah Barbera Pera; Jan Wauters


Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
244 KB
Volume
140A
Category
Article
ISSN
1552-4825

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Deletion of a portion of the long arm of
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## 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,

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We report on two patients with distal deletions of 6q. In one case a de novo translocation between chromosomes 6 and 7 resulted in del(6q2546qter). The other case had a de novo deletion, also from 6q25 to 6qter. There have been eight previous reports of distal deletions of 6q. These patients have de