Literature DB >> 18342595

Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum.

Sintia Iole Nogueira1, April M Hacker, Fernanda T S Bellucco, Denise M Christofolini, Leslie Domenici Kulikowski, Mirlene C S P Cernach, Beverly S Emanuel, Maria Isabel Melaragno.   

Abstract

Deletions in region 22q11.2 usually occur between two low copy repeat regions (LCRs), which are preferred chromosome sites for rearrangements. Most of the deletions encompass the same approximately 3 or approximately 1.5 Mb region, with breakpoints at LCR A and D or at LCR A and B, respectively. We report on a patient with clinical features of the 22q deletion syndrome who presents a novel, atypical deletion, smaller than 1.5 Mb, with distal breakpoint in LCR B and proximal breakpoint within no known LCR site.

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Mesh：

Year:  2008        PMID： 18342595      PMCID： PMC2810959          DOI： 10.1016/j.ejmg.2008.02.001

Source DB:  PubMed          Journal:  Eur J Med Genet        ISSN： 1769-7212            Impact factor:   2.708


  21 in total

1.  A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects.

Authors:  S C Saitta; J M McGrath; H Mensch; T H Shaikh; E H Zackai; B S Emanuel
Journal:  Am J Hum Genet       Date:  1999-08       Impact factor: 11.025

2.  Microdeletion 22q11.2: clinical data and deletion size.

Authors:  W S Kerstjens-Frederikse; H Kurahashi; D A Driscoll; M L Budarf; B S Emanuel; B Beatty; T Scheidl; J Siegel-Bartelt; K Henderson; C Cytrynbaum; G Nie; I Teshima
Journal:  J Med Genet       Date:  1999-09       Impact factor: 6.318

3.  A novel 22q11.2 microdeletion in DiGeorge syndrome.

Authors:  A Rauch; R A Pfeiffer; G Leipold; H Singer; M Tigges; M Hofbeck
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

4.  Another critical region for deletion of 22q11: a study of 100 patients.

Authors:  H Kurahashi; E Tsuda; R Kohama; T Nakayama; M Masuno; K Imaizumi; T Kamiya; T Sano; S Okada; I Nishisho
Journal:  Am J Med Genet       Date:  1997-10-17

5.  Detection of an atypical 22q11 deletion that has no overlap with the DiGeorge syndrome critical region.

Authors:  H O'Donnell; C McKeown; C Gould; B Morrow; P Scambler
Journal:  Am J Hum Genet       Date:  1997-06       Impact factor: 11.025

6.  Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.

Authors:  L Edelmann; R K Pandita; B E Morrow
Journal:  Am J Hum Genet       Date:  1999-04       Impact factor: 11.025

7.  Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2.

Authors:  A Rauch; S Zink; C Zweier; C T Thiel; A Koch; R Rauch; J Lascorz; U Hüffmeier; M Weyand; H Singer; M Hofbeck
Journal:  J Med Genet       Date:  2005-04-14       Impact factor: 6.318

8.  Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR).

Authors:  L McQuade; J Christodoulou; M Budarf; R Sachdev; M Wilson; B Emanuel; A Colley
Journal:  Am J Med Genet       Date:  1999-09-03

9.  The Philadelphia story: the 22q11.2 deletion: report on 250 patients.

Authors:  D M McDonald-McGinn; R Kirschner; E Goldmuntz; K Sullivan; P Eicher; M Gerdes; E Moss; C Solot; P Wang; I Jacobs; S Handler; C Knightly; K Heher; M Wilson; J E Ming; K Grace; D Driscoll; P Pasquariello; P Randall; D Larossa; B S Emanuel; E H Zackai
Journal:  Genet Couns       Date:  1999

10.  Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome.

Authors:  F Amati; E Conti; A Novelli; M Bengala; M C Diglio; B Marino; A Giannotti; O Gabrielli; G Novelli; B Dallapiccola
Journal:  Eur J Hum Genet       Date:  1999-12       Impact factor: 4.246
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  8 in total

1.  Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies.

Authors:  Elizabeth Goldmuntz; Prasuna Paluru; Joseph Glessner; Hakon Hakonarson; Jaclyn A Biegel; Peter S White; Xiaowu Gai; Tamim H Shaikh
Journal:  Congenit Heart Dis       Date:  2011-10-20       Impact factor: 2.007

2.  Detecting 22q11.2 deletions by use of multiplex ligation-dependent probe amplification on DNA from neonatal dried blood spot samples.

Authors:  Karina M Sørensen; Peter Agergaard; Charlotte Olesen; Paal S Andersen; Lars A Larsen; John R Ostergaard; Jan P Schouten; Michael Christiansen
Journal:  J Mol Diagn       Date:  2010-01-14       Impact factor: 5.568

Review 3.  Mechanisms underlying structural variant formation in genomic disorders.

Authors:  Claudia M B Carvalho; James R Lupski
Journal:  Nat Rev Genet       Date:  2016-02-29       Impact factor: 53.242

4.  Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins.

Authors:  Lisanne Vervoort; Wolfram Demaerel; Laura Y Rengifo; Adrian Odrzywolski; Elfi Vergaelen; Matthew S Hestand; Jeroen Breckpot; Koen Devriendt; Ann Swillen; Donna M McDonald-McGinn; Ania M Fiksinski; Janneke R Zinkstok; Bernice E Morrow; Tracy Heung; Jacob A S Vorstman; Anne S Bassett; Eva W C Chow; Vandana Shashi; Joris R Vermeesch
Journal:  Hum Mol Genet       Date:  2019-11-15       Impact factor: 6.150

5.  22q11.2 Deletion Syndrome due to a Translocation t(6;22) in a Patient Conceived via in vitro Fertilization.

Authors:  Anelisa Gollo Dantas; Adriana Bortolai; Mariana Moysés-Oliveira; Sylvia Takeno Herrero; Adriana Azoubel Antunes; Beatriz Tavares Costa-Carvalho; Vera Ayres Meloni; Maria Isabel Melaragno
Journal:  Mol Syndromol       Date:  2015-11-14

6.  A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH.

Authors:  Céline Poirsier; Justine Besseau-Ayasse; Caroline Schluth-Bolard; Jérôme Toutain; Chantal Missirian; Cédric Le Caignec; Anne Bazin; Marie Christine de Blois; Paul Kuentz; Marie Catty; Agnès Choiset; Ghislaine Plessis; Audrey Basinko; Pascaline Letard; Elisabeth Flori; Mélanie Jimenez; Mylène Valduga; Emilie Landais; Hakima Lallaoui; François Cartault; James Lespinasse; Dominique Martin-Coignard; Patrick Callier; Céline Pebrel-Richard; Marie-France Portnoi; Tiffany Busa; Aline Receveur; Florence Amblard; Catherine Yardin; Radu Harbuz; Fabienne Prieur; Nathalie Le Meur; Eva Pipiras; Pascale Kleinfinger; François Vialard; Martine Doco-Fenzy
Journal:  Eur J Hum Genet       Date:  2015-10-28       Impact factor: 4.246

Review 7.  In the line-up: deleted genes associated with DiGeorge/22q11.2 deletion syndrome: are they all suspects?

Authors:  Zahra Motahari; Sally Ann Moody; Thomas Michael Maynard; Anthony-Samuel LaMantia
Journal:  J Neurodev Disord       Date:  2019-06-07       Impact factor: 4.025

Review 8.  A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review.

Authors:  Luis Fernández; Julián Nevado; Fernando Santos; Damià Heine-Suñer; Victor Martinez-Glez; Sixto García-Miñaur; Rebeca Palomo; Alicia Delicado; Isidora López Pajares; María Palomares; Luis García-Guereta; Eva Valverde; Federico Hawkins; Pablo Lapunzina
Journal:  BMC Med Genet       Date:  2009-06-02       Impact factor: 2.103
  8 in total

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