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Long‐term survival in a patient with del(18)(q12.2q21.1)
Author(s) -
Tinkle Brad T.,
Christianson Carol A.,
Schorry Elizabeth K.,
Webb Thomas,
Hopkin Robert J.
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.10217
Subject(s) - phenotype , natural history , pediatrics , medicine , psychology , genetics , biology , gene
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.