Literature DB >> 17603802

Deletion 22q11.2: report of a complex meiotic mechanism of origin.

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

Abstract

We report on the case of a patient with a typical de novo 3 Mb 22q11.2 deletion. Haplotype reconstruction of the family, using polymorphic markers flanking the deleted region, demonstrated a complex mechanism of origin of the deletion, involving one intrachromosomal and two interchromosomal events. (c) 2007 Wiley-Liss, Inc.

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Year:  2007        PMID： 17603802      PMCID： PMC2810960          DOI： 10.1002/ajmg.a.31834

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


  17 in total

Review 1.  Segmental duplications: an 'expanding' role in genomic instability and disease.

Authors:  B S Emanuel; T H Shaikh
Journal:  Nat Rev Genet       Date:  2001-10       Impact factor: 53.242

Review 2.  Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease.

Authors:  Christine J Shaw; James R Lupski
Journal:  Hum Mol Genet       Date:  2004-02-05       Impact factor: 6.150

Review 3.  Molecular mechanisms for genomic disorders.

Authors:  Ken Inoue; James R Lupski
Journal:  Annu Rev Genomics Hum Genet       Date:  2002-04-15       Impact factor: 8.929

4.  Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11.

Authors:  N Simon Thomas; Miranda Durkie; Gemma Potts; Richard Sandford; Berendine Van Zyl; Sheila Youings; Nicholas R Dennis; Patricia A Jacobs
Journal:  Eur J Hum Genet       Date:  2006-04-12       Impact factor: 4.246

Review 5.  Developmental genetics of the heart.

Authors:  J Burn; J Goodship
Journal:  Curr Opin Genet Dev       Date:  1996-06       Impact factor: 5.578

6.  Investigation of meiotic rearrangements in DGS/VCFS patients with a microdeletion 22q11.2.

Authors:  D Trost; W Wiebe; S Uhlhaas; P Schwindt; G Schwanitz
Journal:  J Med Genet       Date:  2000-06       Impact factor: 6.318

7.  Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis.

Authors:  T H Shaikh; H Kurahashi; S C Saitta; A M O'Hare; P Hu; B A Roe; D A Driscoll; D M McDonald-McGinn; E H Zackai; M L Budarf; B S Emanuel
Journal:  Hum Mol Genet       Date:  2000-03-01       Impact factor: 6.150

8.  Mutational mechanisms of Williams-Beuren syndrome deletions.

Authors:  Mònica Bayés; Luis F Magano; Núria Rivera; Raquel Flores; Luis A Pérez Jurado
Journal:  Am J Hum Genet       Date:  2003-06-09       Impact factor: 11.025

9.  Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion.

Authors:  Sulagna C Saitta; Stacy E Harris; Ann P Gaeth; Deborah A Driscoll; Donna M McDonald-McGinn; Melissa K Maisenbacher; Jill M Yersak; Prabir K Chakraborty; April M Hacker; Elaine H Zackai; Terry Ashley; Beverly S Emanuel
Journal:  Hum Mol Genet       Date:  2003-12-17       Impact factor: 6.150

10.  Human male recombination maps for individual chromosomes.

Authors:  Fei Sun; Maria Oliver-Bonet; Thomas Liehr; Heike Starke; Evelyn Ko; Alfred Rademaker; Joaquima Navarro; Jordi Benet; Renée H Martin
Journal:  Am J Hum Genet       Date:  2004-02-18       Impact factor: 11.025
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