Trisomy 20q. A New Case and Further Phenotypic Delineation

Herens, Christian; Verloes, Alain; Laloux, Françoise; Van Maldergem, Lionel

doi:10.1111/j.1399-0004.1990.tb03520.x

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Trisomy 20q. A New Case and Further Phenotypic Delineation

Herens, Christian; Verloes, Alain; Laloux, Françoise et al.

1990 • In Clinical Genetics, 37 (5), p. 363-6

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https://hdl.handle.net/2268/84532

DOI
10.1111/j.1399-0004.1990.tb03520.x

PubMed
2191794

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Abstract :

[en] The present report concerns the clinical and cytogenetic findings in a liveborn girl with trisomy for the long arm of chromosome 20. She was the unbalanced product of a maternal t(18;20)(q23.2;q13.1) translocation. Our case is compared to the 3 previous reports of trisomy 20q associated with telomeric translocation. Adenosine deaminase dosage falls in the normal range and confirms the exclusion of the ADA locus from the region extending distally to 20q13.1.

Disciplines :

Genetics & genetic processes

Author, co-author :

Herens, Christian ; Centre Hospitalier Universitaire de Liège - CHU > PLAN COS

Verloes, Alain ; Université de Liège - ULiège > Génétique générale et humaine

Laloux, Françoise ; Université de Liège - ULiège > Département des sciences cliniques

Van Maldergem, Lionel ; Centre Hospitalier Universitaire de Liège - CHU > Génétique

Language :

English

Title :

Trisomy 20q. A New Case and Further Phenotypic Delineation

Publication date :

May 1990

Journal title :

Clinical Genetics

ISSN :

0009-9163

eISSN :

1399-0004

Publisher :

Wiley, Oxford, United Kingdom

Volume :

Issue :

Pages :

363-6

Peer reviewed :

Peer Reviewed verified by ORBi

Available on ORBi :

since 11 February 2011

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Bibliography

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Fawcett W.A., McCord W.K., Francke U. (1975) Trisomy 14q‐. Birth Defects. O. A. S. 11(5):223-228.
de Grouchy J., Turleau C. Atlas des Maladies Chromosomiques, 2nd Edit., Paris, L'Expension Scientifique; 1982.
Jhanwar S.C., Berkvens T.M., Meera Khan P., Valerio D., Brenkel C. (1988) In situ localization of human ADA to chromosome 20q12‐q13.11 region (Abstract). Cytogenet. Cell Genet. 46:664.
Pawlowitzki I.H., Gröbe H., Holzgreve W. (1979) Trisomy 20q due to maternal t(16;20) translocation. First case. Clin. Genet. 15:167-170.
Petersen M.B., Tranebjaerg L., Tommerup N., Nygaard P., Edwards H. (1987) New assignment of the adenosine deaminase gene locus to chromosome 20q 13.11 by study of a patient with interstitial deletion 20q. J. Med. Genet. 24:93-96.
Philip T., Lenoir G., Rolland M.O., Philip I., Haniet M., Lauras B., Fraisse J. (1980) Regional assignment of the ADA locus on 20q13.2‐qter by gene dosage studies. Cytogenet. Cell Genet. 27:187-189.
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Sanchez O., Mamunes P., Yunis J.J. (1977) Partial trisomy 20(20q13) and partial trisomy 21(21pter‐21q21.3). J. Med. Genet. 14:459-462.
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