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. SIMILAR CONTENT BEING VIEWED BY OTHERS DISTAL 2Q DUPLICATION IN A PATIENT WITH

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Borsgard, J., and Sebel, K.-G. 1976. A case of trisomy 20?._Clin. Genet._ 9: 187–191. Article  PubMed  Google Scholar  Download references AUTHOR INFORMATION AUTHORS AND AFFILIATIONS *

Department of Central Clinical Laboratory, Hirosaki University Hospital, Hirosaki University School of Medicine, Hirosaki, Japan Keiji Kogame * Department of Pediatrics, Hirosaki University

Hospital, Hirosaki University School of Medicine, Hirosaki, Japan Tomomasa Fukuhara, Atsuhiko Maeda & Yuji Kudo Authors * Keiji Kogame View author publications You can also search for

this author inPubMed Google Scholar * Tomomasa Fukuhara View author publications You can also search for this author inPubMed Google Scholar * Atsuhiko Maeda View author publications You can

also search for this author inPubMed Google Scholar * Yuji Kudo View author publications You can also search for this author inPubMed Google Scholar RIGHTS AND PERMISSIONS Reprints and

permissions ABOUT THIS ARTICLE CITE THIS ARTICLE 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 Download citation * Received: 19 December 1977 * Published: 01 June 1978 * Issue Date: June 1978 * DOI: https://doi.org/10.1007/BF02001797

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clipboard Provided by the Springer Nature SharedIt content-sharing initiative KEYWORDS * Congenital Heart Disease * Inguinal Hernia * Spina Bifida * Polycythemia Vera * Adenosine Deaminase