A partial short arm deletion of chromosome 20∶46, xy, del(20)(p11)

A partial short arm deletion of chromosome 20∶46, xy, del(20)(p11)

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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. 1972. A ring-20 chromosome._J. Med. Genet._ 9: 377–380. Article  CAS  PubMed  PubMed Central  Google Scholar  * Caspersson, T., Zech, H. J. and Johansson, C. 1970. Differential binding of alkylating fluorochromes in human chromosomes._Exptl. Cell Res._ 60: 315–319. Article  CAS  PubMed  Google Scholar  * Cohen, M. M., Davidson, R. G., and Brown, J. A. 1975. A familial F/G translocation t(20p−; 22q+) observed in three generations._Clin. Genet._ 7: 120–127. Article  CAS  PubMed  Google Scholar  * Faed, M., Morton, H. G., and Robertson, J. 1972. Ring F chromosome mosaicism (46, XY, 20r/46, XY) in an epileptic child without apparent haematological disease._J. Med. Genet._ 9: 470–473. Article  CAS  PubMed  PubMed Central  Google Scholar  * Francke, U. 1972. Quinacrine mustard fluorescence of human chromosomes: Characterization of unusual translocations._Amer. J. Hum. Genet._ 24: 189–213. CAS  PubMed  PubMed Central  Google Scholar  * Herva, R., Saarinen, I., and Leikkonen, L. 1977. The r(20) syndrome._J. Med. Genet._ 14: 281–283. Article  CAS  PubMed  PubMed Central  Google Scholar  * Kalousek, D. K. and Therien, S. 1976. Delection of the short arms of chromosome 20._Hum. Genet._ 34: 89–92. Article  CAS  PubMed  Google Scholar  * Krmpotic, E., Rosenthal, I. M., Szego, K., and Bocian, M. 1971. Trisomy F (?20) report of a 14q/F(?20) familial translocation._Ann. Genet._ 14: 291–299. CAS  PubMed  Google Scholar  * Letnansky, K. and Seelich, F. 1958. Untersuchungen über die Aktivität der Adenosin-Desaminase im Plasma bei Krebskrankheiten unter besonderer Berücksichtigung des Bronchialcarcinoms._Klin. Wschr._ 36: 826–828. Article  CAS  PubMed  Google Scholar  * Loiodice, G., Rovetta, D. G., Bellicini, G., Callura, G., and Bergamo, F. 1970. Malformazioni multiple congenite in un bambino portatore di una anomalia cromosomica del gruppo F (46/XY, 20-p), figlio di un soggetto, clinicamente sano, affetto da analoga malformazione cromosomica._Minerva Pediat._ 22: 1084–1088. CAS  PubMed  Google Scholar  * Pallister, P. D., Hermann, J., Meisner, L. F., Inhorn, S. L., and Opitz, J. M. 1976. Trisomy-20 syndrome in man._Lancet_ I: 431. Article  Google Scholar  * Pan, S. F., Fatora, S. R., Haas, J. E., and Steele, M. W. 1976. Trisomy of chromosome 20._Glin. Genet._ 9: 449–453. CAS  Google Scholar  * Paris Conference. 1971. Standerdization in human cytogenetics (1972). Birth Defects: Original Article Series, 8 (7). National Foundation-March of Dimes, New York. * Reeves, B. R., Lobb, D. S. and Lawler, S. D. 1972. Identity of the abnormal F-group chromosome associated with polycythemia vera._Hum. Genet._ 14: 159–161. Article  CAS  Google Scholar  * Šubrt, I. and Brychnáč, V. 1974. Trisomy for short arm of chromosome 20._Humangenetik_ 23: 219–222. PubMed  Google Scholar  * Sumner, A. T., Evans, H. J., and Buckland, R. A. 1971. New technique for distinguishing between human chromosomes._Nature New Biol._ 232: 31–32. Article  CAS  PubMed  Google Scholar  * Taylor, K. M., Wolfinger, H. L., Brown, M. G., Chadwick, D. L., and Francke, U. 1976. Partial trisomy 20p derived from a t(18;20) translocation._Hum. Genet._ 34: 155–162. Article  CAS  PubMed  Google Scholar  * Tischfield, J. A., Creagan, R. P., Nichols, E., and Ruddle, F. H. 1974. Assignment of adenosine deaminase to chromosome 20._Cytogenet. Cell Genet._ 13: 160–163. Article  CAS  PubMed  Google Scholar  * Uchida, I. A. and Lin, C. C. 1972. Ring formation of chromosomes Nos. 19 and 20._Cytogenetics_ 11: 208–215. Article  CAS  PubMed  Google Scholar  * Wahlström, J., 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 SHARE THIS ARTICLE Anyone you share the following link with will be able to read this content: Get shareable link Sorry, a shareable link is not currently available for this article. Copy to clipboard Provided by the Springer Nature SharedIt content-sharing initiative KEYWORDS * Congenital Heart Disease * Inguinal Hernia * Spina Bifida * Polycythemia Vera * Adenosine Deaminase

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.


1972. A ring-20 chromosome._J. Med. Genet._ 9: 377–380. Article  CAS  PubMed  PubMed Central  Google Scholar  * Caspersson, T., Zech, H. J. and Johansson, C. 1970. Differential binding of


alkylating fluorochromes in human chromosomes._Exptl. Cell Res._ 60: 315–319. Article  CAS  PubMed  Google Scholar  * Cohen, M. M., Davidson, R. G., and Brown, J. A. 1975. A familial F/G


translocation t(20p−; 22q+) observed in three generations._Clin. Genet._ 7: 120–127. Article  CAS  PubMed  Google Scholar  * Faed, M., Morton, H. G., and Robertson, J. 1972. Ring F


chromosome mosaicism (46, XY, 20r/46, XY) in an epileptic child without apparent haematological disease._J. Med. Genet._ 9: 470–473. Article  CAS  PubMed  PubMed Central  Google Scholar  *


Francke, U. 1972. Quinacrine mustard fluorescence of human chromosomes: Characterization of unusual translocations._Amer. J. Hum. Genet._ 24: 189–213. CAS  PubMed  PubMed Central  Google


Scholar  * Herva, R., Saarinen, I., and Leikkonen, L. 1977. The r(20) syndrome._J. Med. Genet._ 14: 281–283. Article  CAS  PubMed  PubMed Central  Google Scholar  * Kalousek, D. K. and


Therien, S. 1976. Delection of the short arms of chromosome 20._Hum. Genet._ 34: 89–92. Article  CAS  PubMed  Google Scholar  * Krmpotic, E., Rosenthal, I. M., Szego, K., and Bocian, M.


1971. Trisomy F (?20) report of a 14q/F(?20) familial translocation._Ann. Genet._ 14: 291–299. CAS  PubMed  Google Scholar  * Letnansky, K. and Seelich, F. 1958. Untersuchungen über die


Aktivität der Adenosin-Desaminase im Plasma bei Krebskrankheiten unter besonderer Berücksichtigung des Bronchialcarcinoms._Klin. Wschr._ 36: 826–828. Article  CAS  PubMed  Google Scholar  *


Loiodice, G., Rovetta, D. G., Bellicini, G., Callura, G., and Bergamo, F. 1970. Malformazioni multiple congenite in un bambino portatore di una anomalia cromosomica del gruppo F (46/XY,


20-p), figlio di un soggetto, clinicamente sano, affetto da analoga malformazione cromosomica._Minerva Pediat._ 22: 1084–1088. CAS  PubMed  Google Scholar  * Pallister, P. D., Hermann, J.,


Meisner, L. F., Inhorn, S. L., and Opitz, J. M. 1976. Trisomy-20 syndrome in man._Lancet_ I: 431. Article  Google Scholar  * Pan, S. F., Fatora, S. R., Haas, J. E., and Steele, M. W. 1976.


Trisomy of chromosome 20._Glin. Genet._ 9: 449–453. CAS  Google Scholar  * Paris Conference. 1971. Standerdization in human cytogenetics (1972). Birth Defects: Original Article Series, 8


(7). National Foundation-March of Dimes, New York. * Reeves, B. R., Lobb, D. S. and Lawler, S. D. 1972. Identity of the abnormal F-group chromosome associated with polycythemia vera._Hum.


Genet._ 14: 159–161. Article  CAS  Google Scholar  * Šubrt, I. and Brychnáč, V. 1974. Trisomy for short arm of chromosome 20._Humangenetik_ 23: 219–222. PubMed  Google Scholar  * Sumner, A.


T., Evans, H. J., and Buckland, R. A. 1971. New technique for distinguishing between human chromosomes._Nature New Biol._ 232: 31–32. Article  CAS  PubMed  Google Scholar  * Taylor, K. M.,


Wolfinger, H. L., Brown, M. G., Chadwick, D. L., and Francke, U. 1976. Partial trisomy 20p derived from a t(18;20) translocation._Hum. Genet._ 34: 155–162. Article  CAS  PubMed  Google


Scholar  * Tischfield, J. A., Creagan, R. P., Nichols, E., and Ruddle, F. H. 1974. Assignment of adenosine deaminase to chromosome 20._Cytogenet. Cell Genet._ 13: 160–163. Article  CAS 


PubMed  Google Scholar  * Uchida, I. A. and Lin, C. C. 1972. Ring formation of chromosomes Nos. 19 and 20._Cytogenetics_ 11: 208–215. Article  CAS  PubMed  Google Scholar  * Wahlström, J.,


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


SHARE THIS ARTICLE Anyone you share the following link with will be able to read this content: Get shareable link Sorry, a shareable link is not currently available for this article. Copy to


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