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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
INTELLECTUAL DISABILITY Article Open access 10 November 2022 DE NOVO 2Q36.3Q37.1 DELETION ENCOMPASSING _TRIP12_ AND _NPPC_ YIELDS DISTINCT PHENOTYPES Article Open access 01 June 2020 XQ22
DELETION INVOLVING _TCEAL1_ IN A FEMALE PATIENT WITH EARLY-ONSET NEUROLOGICAL DISEASE TRAIT Article Open access 15 May 2024 ARTICLE PDF REFERENCES * Atkins, L., Miller, W. L., and Salam, M.
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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