We report on a patient with mosaicism for monosomy 18, a chromosomal abnormality that has been reported only once previously. The patient had cleft lip and palate and mild behavioral and academic problems. His phenotype was milder in comparison with the previously reported patient by Khalifa et al.
β¦ LIBER β¦
A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome
β Scribed by Tiong Yang Tan; Agnes Bankier; Howard R. Slater; Emma L. Northrop; Margaret Zacharin; Ravi Savarirayan
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 151 KB
- Volume
- 139A
- Category
- Article
- ISSN
- 1552-4825
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## Abstract BeckwithβWiedemann syndrome (BWS) is a genetic disorder associated with an increased risk of childhood tumors. Here we describe a patient with BWS who developed a central nervous system atypical teratoid/rhabdoid tumor (AT/RT). To our knowledge, despite the known cancer predisposition,