Literature DB >> 19187739

Clinical utility of array comparative genomic hybridization: uncovering tumor susceptibility in individuals with developmental delay.

Margaret P Adam1, April N Justice, Susan Schelley, Andrea Kwan, Louanne Hudgins, Christa L Martin.   

Abstract

Microarray-based comparative genomic hybridization can determine genome-wide copy number alterations at the kilobase level. We highlight the clinical utility of microarray-based comparative genomic hybridization in determining tumor susceptibility in 3 patients with dysmorphic features and developmental delay, likely decreasing both morbidity and mortality in these patients.

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Year:  2009        PMID： 19187739      PMCID： PMC4072200          DOI： 10.1016/j.jpeds.2008.07.045

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  9 in total

Review 1.  Hamartomatous polyposis syndromes: molecular genetics, neoplastic risk, and surveillance recommendations.

Authors:  D A Wirtzfeld; N J Petrelli; M A Rodriguez-Bigas
Journal:  Ann Surg Oncol       Date:  2001-05       Impact factor: 5.344

2.  Diagnostic genome profiling in mental retardation.

Authors:  Bert B A de Vries; Rolph Pfundt; Martijn Leisink; David A Koolen; Lisenka E L M Vissers; Irene M Janssen; Simon van Reijmersdal; Willy M Nillesen; Erik H L P G Huys; Nicole de Leeuw; Dominique Smeets; Erik A Sistermans; Ton Feuth; Conny M A van Ravenswaaij-Arts; Ad Geurts van Kessel; Eric F P M Schoenmakers; Han G Brunner; Joris A Veltman
Journal:  Am J Hum Genet       Date:  2005-08-30       Impact factor: 11.025

3.  High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome.

Authors:  Stefan Aretz; Dietlinde Stienen; Siegfried Uhlhaas; Steffan Loff; Walter Back; Constanze Pagenstecher; D Ross McLeod; Gail E Graham; Elisabeth Mangold; René Santer; Peter Propping; Waltraut Friedl
Journal:  Hum Mutat       Date:  2005-12       Impact factor: 4.878

4.  Screening for TP53 rearrangements in families with the Li-Fraumeni syndrome reveals a complete deletion of the TP53 gene.

Authors:  Gaëlle Bougeard; Laurence Brugières; Agnès Chompret; Paul Gesta; Françoise Charbonnier; Alexander Valent; Cosette Martin; Grégory Raux; Jean Feunteun; Brigitte Bressac-de Paillerets; Thierry Frébourg
Journal:  Oncogene       Date:  2003-02-13       Impact factor: 9.867

5.  A serine/threonine kinase gene defective in Peutz-Jeghers syndrome.

Authors:  A Hemminki; D Markie; I Tomlinson; E Avizienyte; S Roth; A Loukola; G Bignell; W Warren; M Aminoff; P Höglund; H Järvinen; P Kristo; K Pelin; M Ridanpää; R Salovaara; T Toro; W Bodmer; S Olschwang; A S Olsen; M R Stratton; A de la Chapelle; L A Aaltonen
Journal:  Nature       Date:  1998-01-08       Impact factor: 49.962

6.  Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports.

Authors:  B Menten; N Maas; B Thienpont; K Buysse; J Vandesompele; C Melotte; T de Ravel; S Van Vooren; I Balikova; L Backx; S Janssens; A De Paepe; B De Moor; Y Moreau; P Marynen; J-P Fryns; G Mortier; K Devriendt; F Speleman; J R Vermeesch
Journal:  J Med Genet       Date:  2006-02-20       Impact factor: 6.318

7.  Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features.

Authors:  Swaroop Aradhya; Melanie A Manning; Alessandra Splendore; Athena M Cherry
Journal:  Am J Med Genet A       Date:  2007-07-01       Impact factor: 2.802

8.  Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype.

Authors:  Magali Olivier; David E Goldgar; Nayanta Sodha; Hiroko Ohgaki; Paul Kleihues; Pierre Hainaut; Rosalind A Eeles
Journal:  Cancer Res       Date:  2003-10-15       Impact factor: 12.701

9.  Diagnosing idiopathic learning disability: a cost-effectiveness analysis of microarray technology in the National Health Service of the United Kingdom.

Authors:  Sarah Wordsworth; James Buchanan; Regina Regan; Val Davison; Kim Smith; Sara Dyer; Carolyn Campbell; Edward Blair; Eddy Maher; Jenny Taylor; Samantha J L Knight
Journal:  Genomic Med       Date:  2007-06-05
  9 in total
  8 in total

1.  A common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromes.

Authors:  Adam Shlien; Berivan Baskin; Maria Isabel W Achatz; Dimitrios J Stavropoulos; Kim E Nichols; Louanne Hudgins; Chantal F Morel; Margaret P Adam; Nataliya Zhukova; Lianne Rotin; Ana Novokmet; Harriet Druker; Mary Shago; Peter N Ray; Pierre Hainaut; David Malkin
Journal:  Am J Hum Genet       Date:  2010-11-12       Impact factor: 11.025

2.  Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.

Authors:  Claudia M B Carvalho; Shivakumar Vasanth; Marwan Shinawi; Chad Russell; Melissa B Ramocki; Chester W Brown; Jesper Graakjaer; Anne-Bine Skytte; Angela M Vianna-Morgante; Ana C V Krepischi; Gayle S Patel; LaDonna Immken; Kyrieckos Aleck; Cynthia Lim; Sau Wai Cheung; Carla Rosenberg; Nicholas Katsanis; James R Lupski
Journal:  Am J Hum Genet       Date:  2014-11-06       Impact factor: 11.025

3.  De novo microdeletion of Xp11.3 exclusively encompassing the monoamine oxidase A and B genes in a male infant with episodic hypotonia: a genomics approach to personalized medicine.

Authors:  Ryan E O'Leary; Jean C Shih; Keith Hyland; Nancy Kramer; Y Jane Tavyev Asher; John M Graham
Journal:  Eur J Med Genet       Date:  2012-02-03       Impact factor: 2.708

Review 4.  Introduction to cancer genetic susceptibility syndromes.

Authors:  Rose B McGee; Kim E Nichols
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2016-12-02

5.  Diagnostic and Therapeutic Misconception: Parental Expectations and Perspectives Regarding Genetic Testing for Developmental Disorders.

Authors:  Isabelle Tremblay; Steffany Grondin; Anne-Marie Laberge; Dominique Cousineau; Lionel Carmant; Anita Rowan; Annie Janvier
Journal:  J Autism Dev Disord       Date:  2019-01

Review 6.  Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns.

Authors:  Curtis R Coughlin; Gunter H Scharer; Tamim H Shaikh
Journal:  Genome Med       Date:  2012-10-30       Impact factor: 11.117

7.  Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities.

Authors:  Melanie Manning; Louanne Hudgins
Journal:  Genet Med       Date:  2010-11       Impact factor: 8.822

8.  The clinical impact of chromosomal microarray on paediatric care in Hong Kong.

Authors:  Victoria Q Tao; Kelvin Y K Chan; Yoyo W Y Chu; Gary T K Mok; Tiong Y Tan; Wanling Yang; So Lun Lee; Wing Fai Tang; Winnie W Y Tso; Elizabeth T Lau; Anita S Y Kan; Mary H Tang; Yu-Lung Lau; Brian H Y Chung
Journal:  PLoS One       Date:  2014-10-15       Impact factor: 3.240
  8 in total

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