We describe a three-year-old girl with a triangular face, epicanthus, midfacial hypoplasia, apparently low-set ears, a small mouth with thin vermilion border, and a small chin, hypermobile joints, developmental delay with insecure gait, dystonic movement disorder, speech defect, and a history of unexplained undernutrition. She has a de novo, apparently balanced translocation t(5;10)(q35.2;q11.2). Using fluorescence in situ hybridization (FISH), we located the breakpoints in the 1.5-Mb area defined by YAC 753f5 (5q35.2) and within the approximately 2-Mb interval between 10cen and YAC 933a3 (10q11.21).
|Journal||American Journal of Medical Genetics|
|Number of pages||3|
|Publication status||Published - 01.02.2001|
Research Areas and Centers
- Research Area: Medical Genetics