Eur J Med Genet. 2007 Jan-Feb;50(1):54-9. Epub 2006 Sep 10.

Subtelomeric trisomy 21q: a new benign chromosomal variant.

Bonaglia MC, Marelli S, Gottardi G, Zucca C, Pramparo T, Giorda R, Grasso R, Borgatti R, Zuffardi O.

Source

IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy. clara.bonaglia@bp.lnf.it

Abstract

The diagnosis of a subtelomeric rearrangement has immediate impact on counseling, particularly in the case of familial rearrangements. However, the existence of subtelomeric imbalances with absent phenotypic effects may hamper genetic counseling, particularly when the rearrangement has not been previously described. We report on a new subtelomeric polymorphism, consisting of a familial subtelomeric rearrangement of chromosome 19 resulting in distal trisomy for 21q, detected in a child with Angelman Syndrome (AS) due to an UBE3A mutation. This report shows that new, previously unknown, benign subtelomeric variants may complicate the correct clinical diagnosis.

PMID:: 17055792; [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms, Substances, Grant Support

Publication Types

MeSH Terms

Substances

Grant Support

GP0247Y01/Telethon/Italy

LinkOut - more resources

Full Text Sources

Other Literature Sources

Labome Researcher Resource - ExactAntigen/Labome

Medical

Supplemental Content

Save items

Related citations in PubMed

Concurrent transposition of distal 6p and 20q to the 22q telomere: a recurrent benign chromosomal variant. [Eur J Med Genet. 2008]
Concurrent transposition of distal 6p and 20q to the 22q telomere: a recurrent benign chromosomal variant.
Bonaglia MC, Giorda R, Beri S, Peters GB, Kirk EP, Hung D, Ciccone R, Gottardi G, Zuffardi O. Eur J Med Genet. 2008 Mar-Apr; 51(2):148-55. Epub 2007 Dec 8.
Subtelomeric chromosomal rearrangements detected in patients with idiopathic mental retardation and dysmorphic features. [Genet Couns. 2005]
Subtelomeric chromosomal rearrangements detected in patients with idiopathic mental retardation and dysmorphic features.
Caliskan MO, Karauzum SB, Mihci E, Tacoy S, Luleci G. Genet Couns. 2005; 16(2):129-38.
Familial complex 3q;10q rearrangement unraveled by subtelomeric FISH analysis. [Am J Med Genet A. 2006]
Familial complex 3q;10q rearrangement unraveled by subtelomeric FISH analysis.
Battaglia A, Novelli A, Ceccarini C, Carey JC. Am J Med Genet A. 2006 Jan 15; 140(2):144-50.
Review Subtelomeric rearrangements as neutral genomic polymorphisms. [Am J Med Genet A. 2005]
Review Subtelomeric rearrangements as neutral genomic polymorphisms.
Hengstschläger M, Prusa A, Repa C, Deutinger J, Pollak A, Bernaschek G. Am J Med Genet A. 2005 Feb 15; 133A(1):48-52.
Review Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical region. [Am J Med Genet A. 2003]
Review Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical region.
Horn D, Neitzel H, Tönnies H, Kalscheuer V, Kunze J, Hinkel GK, Bartsch O. Am J Med Genet A. 2003 Mar 15; 117A(3):236-44.

See reviews... See all...

Cited by 1 PubMed Central article

Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion. [Eur J Hum Genet. 2009]
Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion.
Bonaglia MC, Giorda R, Beri S, Bigoni S, Sensi A, Baroncini A, Capucci A, De Agostini C, Gwilliam R, Deloukas P, et al. Eur J Hum Genet. 2009 Apr; 17(4):426-33. Epub 2008 Oct 15.

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.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

Subtelomeric trisomy 21q: a new benign chromosomal variant.
Subtelomeric trisomy 21q: a new benign chromosomal variant.
Eur J Med Genet. 2007 Jan-Feb ;50(1):54-9. Epub 2006 Sep 10 .

PubMed
Morphogenesis and cell cycle progression in Candida albicans.
Morphogenesis and cell cycle progression in Candida albicans.
Curr Opin Microbiol. 2006 Dec ;9(6):595-601. Epub 2006 Oct 20 .

PubMed
Sleep and GABA levels in the oral part of rat pontine reticular formation are de...
Sleep and GABA levels in the oral part of rat pontine reticular formation are decreased by local and systemic administration of morphine.
Neuroscience. 2007 Jan 5 ;144(1):375-86. Epub 2006 Oct 19 .

PubMed
Chewing gum and context-dependent memory effects: a re-examination.
Chewing gum and context-dependent memory effects: a re-examination.
Appetite. 2007 Mar ;48(2):154-8. Epub 2006 Oct 19 .

PubMed
Variable O-glycosylation of CD13 (aminopeptidase N).
Variable O-glycosylation of CD13 (aminopeptidase N).
J Biol Chem. 1991 Mar 5 ;266(7):4593-7.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: