The symptoms and prognosis of<unk>  are highly variable. The severity of the symptoms is largely determined by the size of the isochromosome, the specific regions of chromosome<unk>  that are duplicated, as well as the number and type of tissues that are affected in the mosaic form. Most patients exhibit some degree of intellectual disability, abnormal skeletal and muscular development, and abnormal facial structures. Cognitive symptoms range from slight learning disabilities to severe deficits in intellectual functioning. Due to abnormal development of the muscles, individuals often experience limited or delayed mobility. Atypical facial features are characteristic of the syndrome, including widely spaced eyes, a large nose, and unusually positioned ears. Additionally, patients often have extra skin around the neck and widely spaced nipples. A wide range of renal, digestive, cardiac, respiratory, and nervous system abnormalities have been observed. Though rare, a few cases of phenotypically normal individuals with<unk>  have been documented.
Tetrasomy 9p
Tetrasomy 18p
Monosomy 9p
Distal trisomy 10q
Partial monosomy 13q
2q37 monosomy
Small supernumerary marker chromosome
Xp11.2 duplication