Long-term survival in a patient with del(18)(q12.2q21.1)

✍ Scribed by Tinkle, Brad T. ;Christianson, Carol A. ;Schorry, Elizabeth K. ;Webb, Thomas ;Hopkin, Robert J.

• Publisher: John Wiley and Sons
• Year: 2003
• Tongue: English
• Weight: 209 KB
• Volume: 119A
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.a.10217

✦ Synopsis

Abstract

The 18q‐ syndrome is relatively common among cytogenetic abnormalities occurring in approximately 1 in 40,000 live births. However, interstitial deletions involving 18q12.2 to q21.1 are much less common. Only 15 cases have been reported in the literature. A phenotypic pattern is emerging of mild dysmorphic features, mental retardation, behavior abnormalities, and the lack of serious malformations. We present a 67‐year‐old woman with minor dysmorphic features, moderate mental retardation, hyperphagia, and del(18)(q12.2q21.1). This patient is presented for the natural history of this deletion syndrome as well as the behavioral phenotype. © 2003 Wiley‐Liss, Inc.