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

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 dys...

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Veröffentlicht in:American journal of medical genetics 2003-05, Vol.119A (1), p.66-70
Hauptverfasser: Tinkle, Brad T., Christianson, Carol A., Schorry, Elizabeth K., Webb, Thomas, Hopkin, Robert J.
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Sprache:eng
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Zusammenfassung: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.
ISSN:1552-4825
0148-7299
1552-4833
1096-8628
DOI:10.1002/ajmg.a.10217