Interstitial deletion of chromosome 3p: Report of a patient and delineation of a proximal 3p deletion syndrome
β Scribed by Neri, Giovanni ;Reynolds, James F. ;Westphal, Joan ;Hinz, Jeffrey ;Daniel, Art
- Publisher
- John Wiley and Sons
- Year
- 1984
- Tongue
- English
- Weight
- 311 KB
- Volume
- 19
- Category
- Article
- ISSN
- 0148-7299
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## Abstract Deletion 3p syndrome is associated with characteristic facial features, growth failure, and mental retardation. Typically, individuals with deletion 3p syndrome have terminal deletions that result in loss of material from 3p25 to 3pter. We present a child with a clinical phenotype consi
## Abstract Interstitial deletions of the long arm of chromosome 3 are uncommon. Most cases are related to the blepharophimosisβptosisβepicanthus 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