Sanchez-Garcia J F, de Die-Smulders C E, Weber J W, Jetten A G, Loneus W H, Hamers A J, Engelen J J
Research Institute Growth and Development, Department of Clinical Genetics, University of Maastricht, Maastrricht, The Netherlands.
Am J Med Genet. 2001 Apr 15;100(1):56-61. doi: 10.1002/1096-8628(20010415)100:1<56::aid-ajmg1207>3.0.co;2-s.
We report on a 2-year-old boy presenting with growth and psychomotor retardation and facial anomalies, including a flat face with prominent forehead, a flat nasal bridge and flat occiput, unusually long curved eyelashes, and a thin upper lip with down-turned corners of the mouth. Analysis of GTG-banded chromosomes demonstrated that the patient had extra chromosomal material in the long arm of one chromosome 5. This chromosome aberration was characterized further using microdissection and FISH with band-specific probes and a de novo direct duplication (5)(q31.3q33.3) was shown to be present. We have compared this case with others known to be partially trisomic for chromosome 5q reported in the literature.
