A case of partial monosomy of the 13p terminal to 13q12, associated with a de novo 13/18 translocation, is reported. The symptoms appeared to be derived from both 18q- and partial monosomy 13, the latter giving rise to: high arched palate, epicanthus, antimongolian slant, small eye fissure, flat nasal bridge, hypoplastic helix, and large clitoris. Serum Ig-A and Ig-M levels were normal in our case.
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Suzuki, Y., Ono, K., Oka, S. et al. A case of (13q;18q) translocation with proximal 13q monosomy. Hum. Genet. 38, 337–341 (1977). https://doi.org/10.1007/BF00402161
- Internal Medicine
- Metabolic Disease
- Nasal Bridge
- High Arched Palate
- Partial Monosomy