Partial deletion of the short arm of chromosome 3 (3p25 → 3pter) Further delineation of the clinical phenotype
✍ Scribed by David R. Witt; Brian Biedermann; Judith G. Hall
- Book ID
- 115089316
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 429 KB
- Volume
- 27
- Category
- Article
- ISSN
- 0009-9163
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Two profoundly mentally retarded brothers with partial trisomy for the distal part of the short arm of chromosome 3 (3p25 to 3pter) are described. Their anomaly arose as a segregation product of a balanced t(3p-;18q+) translocation in the mother. Compared with the other cases of partial 3p trisomy r
## Abstract Interstitial deletions of the long arm of chromosome 3 are uncommon. Most cases are related to the blepharophimosis–ptosis–epicanthus inversus syndrome (BPES), which is mapped to 3q23. We report on a case with a de novo chromosomal deletion of 3q23 and 3q25. We review the literature on