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

Orit Reish, Susan A. Berry, Gordon Dewald, Richard A. King

Research output: Contribution to journalArticlepeer-review

26 Scopus citations

Abstract

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)(p15→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.

Original languageEnglish (US)
Pages (from-to)21-25
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume61
Issue number1
DOIs
StatePublished - Jan 2 1996

Keywords

  • critical region
  • deletion 20q
  • duplication 7p
  • phenotype

Fingerprint Dive into the research topics of 'Duplication of 7p: Further delineation of the phenotype and restriction of the critical region to the distal part of the short arm'. Together they form a unique fingerprint.

Cite this