Am J Med Genet A. 2005 Sep 1;137A(3):308-12.

Trisomy 20q13 --> 20qter in a girl with multiple congenital malformations and a recombinant chromosome 20 inherited from a paternal inversion (20)(p13q13.1): clinical report and review of the trisomy 20q phenotype.

Grange DK, Garcia-Heras J, Kilani RA, Lamp S.

Source

Department of Pediatrics, Division of Medical Genetics, Washington University School of Medicine, St. Louis, Missouri 63110, USA. grange_d@kids.wustl.edu

Abstract

We report on a patient with a rec(20)dup(20q) chromosome abnormality derived from a paternal chromosome 20 inversion [inv(20)(p13q13.1)]. The rearrangement results in a duplication of 20q13.1 to 20qter and a deletion of 20p13 to 20pter. The patient is a girl with craniofacial features and multiple congenital malformations that overlap with the abnormalities previously described in trisomy 20q syndrome. To our knowledge this is the first report of a patient with rec(20)dup 20q.

PMID:: 16092120; [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms

Publication Types

MeSH Terms

LinkOut - more resources

Full Text Sources

Other Literature Sources

Labome Researcher Resource - ExactAntigen/Labome

Medical

Supplemental Content

Save items

Related citations in PubMed

Identical cryptic partial monosomy 20pter and trisomy 20qter in three adult siblings due to a large maternal pericentric inversion: detection by MLPA and breakpoint mapping by SNP array analysis. [Am J Med Genet A. 2009]
Identical cryptic partial monosomy 20pter and trisomy 20qter in three adult siblings due to a large maternal pericentric inversion: detection by MLPA and breakpoint mapping by SNP array analysis.
Stevens SJ, Smeets EE, Blom E, van Uum CM, Albrechts JC, Herbergs J, Janssen JW, Engelen JJ. Am J Med Genet A. 2009 Oct; 149A(10):2226-30.
Review Trisomy 20q caused by interstitial duplication 20q13.2: clinical report and literature review. [Am J Med Genet A. 2008]
Review Trisomy 20q caused by interstitial duplication 20q13.2: clinical report and literature review.
Blanc P, Gouas L, Francannet C, Giollant M, Vago P, Goumy C. Am J Med Genet A. 2008 May 15; 146A(10):1307-11.
Review A de novo subtelomeric monosomy 11q (11q24.2-qter) and trisomy 20q (20q13.3-qter) in a girl with findings compatible with Jacobsen syndrome: case report and review. [Clin Dysmorphol. 2007]
Review A de novo subtelomeric monosomy 11q (11q24.2-qter) and trisomy 20q (20q13.3-qter) in a girl with findings compatible with Jacobsen syndrome: case report and review.
Courtens W, Wauters J, Wojciechowski M, Reyniers E, Scheers S, van Luijk R, Rooms L, Kooy F, Wuyts W. Clin Dysmorphol. 2007 Oct; 16(4):231-9.
Review Trisomy 20q caused by der(4) t(4;20) (q35;q13.1): report of a new patient and review of the literature. [Am J Med Genet. 2002]
Review Trisomy 20q caused by der(4) t(4;20) (q35;q13.1): report of a new patient and review of the literature.
Plotner PL, Smith JL, Northrup H. Am J Med Genet. 2002 Jul 22; 111(1):71-5.
Review A rec(4) dup 4p inherited from a maternal inv(4)(p15q35): case report and review. [Am J Med Genet. 2002]
Review A rec(4) dup 4p inherited from a maternal inv(4)(p15q35): case report and review.
Garcia-Heras J, Martin J. Am J Med Genet. 2002 May 1; 109(3):226-30.

See reviews... See all...

Cited by 2 PubMed Central articles

Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus. [Am J Med Genet A. 2010]
Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus.
Verkerk AJ, Schot R, van Waterschoot L, Douben H, Poddighe PJ, Lequin MH, de Vries LS, Terhal P, Hahnemann JM, de Coo IF, et al. Am J Med Genet A. 2010 Jun; 152A(6):1488-97.
Two siblings with alternate unbalanced recombinants derived from a large cryptic maternal pericentric inversion of chromosome 20. [Am J Med Genet A. 2010]
Two siblings with alternate unbalanced recombinants derived from a large cryptic maternal pericentric inversion of chromosome 20.
Descipio C, Morrissette JD, Conlin LK, Clark D, Kaur M, Coplan J, Riethman H, Spinner NB, Krantz ID. Am J Med Genet A. 2010 Feb; 152A(2):373-82.

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
MedGen
Related information in MedGen
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

Trisomy 20q13 --> 20qter in a girl with multiple congenital malformations and a ...
Trisomy 20q13 --> 20qter in a girl with multiple congenital malformations and a recombinant chromosome 20 inherited from a paternal inversion (20)(p13q13.1): clinical report and review of the trisomy 20q phenotype.
Am J Med Genet A. 2005 Sep 1 ;137A(3):308-12.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: