Long-term survival in a patient with del(18)(q12.2q21.1)
| Autor: | Thomas Webb, Carol A. Christianson, Elizabeth K. Schorry, Brad T. Tinkle, Robert J. Hopkin |
|---|---|
| Rok vydání: | 2003 |
| Předmět: |
Genetics
Survival Mild dysmorphic features Hyperphagia Biology Bioinformatics Long arm Phenotype Natural history Chromosome 18 Intellectual Disability Cytogenetic Analysis Long term survival Chromosomal Abnormality Humans Female Deletion syndrome Chromosomes Human Pair 18 Genetics (clinical) Aged Sequence Deletion |
| Zdroj: | American Journal of Medical Genetics. :66-70 |
| ISSN: | 1096-8628 0148-7299 |
| DOI: | 10.1002/ajmg.a.10217 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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