Interstitial 6q deletion and Prader-Willi-like phenotype
| Autor: | Constance K. Stein, Joe J. Hoo, Susan E. Stred, Frank C. Smith, Laura L. Thomson |
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| Rok vydání: | 1996 |
| Předmět: |
Genetics
Male congenital hereditary and neonatal diseases and abnormalities Prader-Labhart-Willi Syndrome Diagnostico diferencial nutritional and metabolic diseases Chromosome Dwarfism Nutritional status Biology Long arm medicine.disease Phenotype nervous system diseases medicine Humans Chromosomes Human Pair 6 Chromosome Deletion Child Clinical evaluation Prader-Willi Syndrome Genetics (clinical) |
| Zdroj: | Clinical genetics. 49(6) |
| ISSN: | 0009-9163 |
| Popis: | A third case of an interstitial deletion of the long arm of chromosome 6 with clinical features mimicking Prader-Willi syndrome (PWS) is presented. Although preliminary clinical evaluation in each case suggested PWS, further review revealed that the features in all three cases are not completely compatible with the characteristic findings in Prader-Willi syndrome. Furthermore, the deletions in the three cases do not show a consistent region of overlap. Consequently, no particular band or region in 6q can be defined as associated with obesity. However, our findings confirm the suggestion of Villa et al. in 1995, that individuals with a PWS phenotype who are cytogenetically and molecularly negative for a deletion of 15q11-q13 should be examined for a deletion of 6q. |
| Databáze: | OpenAIRE |
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