Abstract
A case of deletion of the short arm of chromosome 3 (46,XY,del(3)(p253) is described. The patient is a youth of 18 years in an institution for the mentally retarded. Phenotypically, he presents congenital heart disease, hypertelorism, ptosis, epicanthus, blepharophimosis, strabismus, nystagmus, synophrys, low-set ears, frequent infections, epilepsy (abnormal EEG and grand mal seizures), “rocker bottom” feet, flat occiput and muscular hypotonia. The parents are healthy and with normal karyotypes. A silent allele in the GPT system was found in the mother, the propositus and 4 of the 5 siblings.
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Merrild, U., Berggreen, S., Hansen, L. et al. Partial deletion of the short arm of chromosome 3. Eur J Pediatr 136, 211–216 (1981). https://doi.org/10.1007/BF00441927
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DOI: https://doi.org/10.1007/BF00441927