Summary
We have identified a partial deletion of the short arm of chromosome 20 in a 5-year-old boy from parents having normal phenotype and karyotype. His major anomalies were mild mental retardation, congenital heart disease, chest deformity, spina bifida, kyphoscoliosis, inguinal hernia, and preauricular fistula. The clinical findings were compared with those of two patients reported previously as a partial deletion 20p.
The activity of adenosine deaminase in the patient's red blood cells was within normal range, suggesting that the gene locus for the enzyme, which has been previously assigned to chromosome 20, may not present on p11→pter of chromosome 20.
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Kogame, K., Fukuhara, T., Maeda, A. et al. A partial short arm deletion of chromosome 20∶46, XY, del(20)(p11). Jap J Human Genet 23, 153–160 (1978). https://doi.org/10.1007/BF02001797
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DOI: https://doi.org/10.1007/BF02001797