Abstract
Since the advent of banding techniques, more than one hundred syndromes have been described based on just chromosomal abnormalities. In the majority of those cases a specific chromosomal abnormality could not be suggested by physical examination alone. However, after cytogenetic evaluation was completed, new syndromes were discovered. The 18p- syndrome is one such example whose clinical manifestations are so heterogeneious that by simply examining the patient, the abnormality of chromosome 18 was not even suspected. In fact, our patient was referred for cytogenetic evaluation to rule out Turner syndrome. The major clinical features included: mental and growth retardation, a few dysmorphic facial features, protruding ears, low hair line in the back, severe dental caries and behavioral problems. This is the first reported case of psychosis in this type of genetic abnormality. Primary and secondary amenorrhea are most frequently reported, however, our case had normal sexual development and normal menstruation. After reviewing the current literature, we concluded that it is impossible to establish a 18p- syndrome without chromosomal analysis.
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Kanjilal, D., Verma, R. & Jhaveri, R. 18p- SYNDROME: CLINICIANS FANTASY. Pediatr Res 21 (Suppl 4), 228 (1987). https://doi.org/10.1203/00006450-198704010-00372
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DOI: https://doi.org/10.1203/00006450-198704010-00372