Malignant rhabdoid tumors are rare and aggressive neoplasms of childhood, occurring in the kidney or in various extrarenal locations. Most cytogenetic studies of these tumors have shown the frequent involvement of chromosome 22, including translocations and/or deletions, with a critical region for a
Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriers
β Scribed by Sylwia Chocholska; Eva Rossier; Gotthold Barbi; Hildegard Kehrer-Sawatzki
- Publisher
- John Wiley and Sons
- Year
- 2006
- Tongue
- English
- Weight
- 219 KB
- Volume
- 140A
- Category
- Article
- ISSN
- 1552-4825
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## Abstract We describe the case of a 6βmonthβold boy with psychomotor retardation, craniofacial dysmorphism, cleft lip and palate, as well as hearing and visual impairment. Analysis of Gβbanded chromosomes of the propositus showed a de novo interstitial deletion of the short arm of chromosome 12,