Partial Trisomy 20q Due to Paternal T(8;20) Translocation. Case Report and Review of the Literature

Pierquin, Geneviève; Herens, Christian; Dodinval, P.; Frederic, J.; Weber, I.; Senterre, Jacques; Fryns, J. P.

doi:10.1111/j.1399-0004.1988.tb03466.x

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Article (Scientific journals)

Partial Trisomy 20q Due to Paternal T(8;20) Translocation. Case Report and Review of the Literature

Pierquin, Geneviève; Herens, Christian; Dodinval, P. et al.

1988 • In Clinical Genetics, 33 (5), p. 386-9

Peer Reviewed verified by ORBi

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https://hdl.handle.net/2268/84536

DOI
10.1111/j.1399-0004.1988.tb03466.x

PubMed
3288379

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Abstract :

[en] In this report we present a malformed female newborn with partial trisomy 20q who was the unbalanced product of a paternal 8p/20q translocation (46,XY,t(8;20) (p23.1;q11].

Disciplines :

Genetics & genetic processes

Author, co-author :

Pierquin, Geneviève ; Centre Hospitalier Universitaire de Liège - CHU > Génétique

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

Dodinval, P.

Frederic, J.

Weber, I.

Senterre, Jacques ; Université de Liège - ULiège > Services généraux (Faculté de médecine) > Relations académiques et scientifiques (Médecine)

Fryns, J. P.

Language :

English

Title :

Partial Trisomy 20q Due to Paternal T(8;20) Translocation. Case Report and Review of the Literature

Publication date :

May 1988

Journal title :

Clinical Genetics

ISSN :

0009-9163

eISSN :

1399-0004

Publisher :

Wiley, Oxford, United Kingdom

Volume :

Issue :

Pages :

386-9

Peer reviewed :

Peer Reviewed verified by ORBi

Available on ORBi :

since 11 February 2011

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Bibliography

Fawcett W.A., McCord W.K., Franke U. (1975) Trisomy 14q –. New chromosomal and malformations syndromes. Birth Defects: Original Article Series 11(5):223-228.
Pawlowitzki I.H., Grobe H., Holzgreve W. (1979) Trisomy 20q due to maternal t(16;20) translocation. First case. Clin. Genet. 15:167-170.
Rethore M.O., Aurias A., Couturier J., Dutrillaux M., Priaur M., Lejeune J. (1977) Chromosome 8: trisomie complète et trisomies segmentaires. Ann. Génét. (Paris) 20:5-11.
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.
Sax C.M., Bodurtha J.N., Brown J.A. (1986) Case report: partial trisomy 20q(20q13.13→ter). Clin. Genet. 30:462-465.
Weleher R.G., Verma R.S., Kimbenberg W.J., Fieger H.G., Alaubs H. (1976) Duplication‐deficiency of the short arm of chromosome 8 following artificial insemination. Ann. Génét. (Paris) 19:241-247.