De novo balanced chromosome rearrangements in prenatal diagnosis

We surveyed the datasheets of 29 laboratories concerning prenatal diagnosis of de novo apparently balanced chromosome rearrangements to assess the involvement of specific chromosomes, the breakpoints distribution and the impact on the pregnancy outcome.

[1]  B. Emanuel,et al.  Two different forms of palindrome resolution in the human genome: deletion or translocation. , 2008, Human molecular genetics.

[2]  N. Carter,et al.  Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort. , 2008, American journal of human genetics.

[3]  I. Krantz,et al.  Fine‐mapping subtelomeric deletions and duplications by comparative genomic hybridization in 42 individuals , 2008, American journal of medical genetics. Part A.

[4]  B. Gómez-González,et al.  Genome instability: a mechanistic view of its causes and consequences , 2008, Nature Reviews Genetics.

[5]  R. Kooy,et al.  Fragile sites and human disease. , 2007, Human molecular genetics.

[6]  M. Fichera,et al.  Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients , 2007, Journal of Medical Genetics.

[7]  A. Chao,et al.  Prenatally diagnosed balanced chromosome rearrangements: eight years' experience. , 2006, The Journal of reproductive medicine.

[8]  L. Ballarati,et al.  Prenatal diagnosis of a de novo complex chromosome rearrangement (CCR) mediated by six breakpoints, and a review of 20 prenatally ascertained CCRs , 2006, Prenatal diagnosis.

[9]  A. Beaudet,et al.  Comparative genomic hybridization and prenatal diagnosis , 2006, Current opinion in obstetrics & gynecology.

[10]  F. Torricelli,et al.  Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: Cooperative study of 19 Italian laboratories , 2005, Genetics in Medicine.

[11]  Wen-Hsiung Li,et al.  Patterns of segmental duplication in the human genome. , 2004, Molecular biology and evolution.

[12]  M. Adams,et al.  Recent Segmental Duplications in the Human Genome , 2002, Science.

[13]  P. Stankiewicz,et al.  Genome architecture, rearrangements and genomic disorders. , 2002, Trends in genetics : TIG.

[14]  U. Kristoffersson,et al.  Quality Guidelines and Standards for Genetic Laboratories/Clinics in Prenatal Diagnosis on Fetal Samples Obtained by Invasive Procedures , 1997, European journal of human genetics : EJHG.

[15]  F. Mitelman ISCN 1995 : an international system for human cytogenetic nomenclature (1995) : recommendations of the International Standing Committee on Human Cytogenetic Nomenclature : Memphis, Tennessee, USA, October 9-13, 1994 , 1995 .

[16]  D. Ledbetter,et al.  Cytogenetic results from the U.S. collaborative study on CVS , 1992, Prenatal diagnosis.

[17]  D. Warburton,et al.  De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. , 1991, American journal of human genetics.

[18]  C. Denniston,et al.  The nonrandom participation of human acrocentric chromosomes in Robertsonian translocations , 1989, Annals of human genetics.

[19]  Iscn International System for Human Cytogenetic Nomenclature , 1978 .