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Duplication of 7p: Further delineation of the phenotype and restriction of the critical region to the distal part of the short arm

✍ Scribed by Reish, Orit ;Berry, Susan A. ;Dewald, Gordon ;King, Richard A.

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 39 KB
Volume: 61
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19960102)61:1<21::aid-ajmg4>3.0.co;2-#

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✦ Synopsis

We report on a patient with duplication of 7p15+pter and review the literature. Patients with partial duplication of the distal 7p, including only the distal segment 7p15+pter, have a syndrome comparable to that of patients with a larger or complete duplication of 7p. This suggests that the critical region for the dup(7p) phenotype is restricted to 7p15+pter. The complete clinical phenotype of dup(7)(pl5+pter) includes mental retardation, skull anomalies, large anterior fontanel, cardiovascular defects, joint dislocation and contraction, and gastrointestinal and genital defects. Recognition of the clinical spectrum in patients with a smaller duplication of 7p, and the assignment of this critical region, should prove valuable for accurate counseling, prediction of outcome, and further gene mapping.

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