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Literature DB >> 7485173

Comparative genomic hybridization in clinical cytogenetics.

T Bryndorf¹, M Kirchhoff, H Rose, J Maahr, T Gerdes, R Karhu, A Kallioniemi, B Christensen, C Lundsteen, J Philip.

Abstract

We report the results of applying comparative genomic hybridization (CGH) in a cytogenetic service laboratory for (1) determination of the origin of extra and missing chromosomal material in intricate cases of unbalanced aberrations and (2) detection of common prenatal numerical chromosome aberrations. A total of 11 fetal samples were analyzed. Seven cases of complex unbalanced aberrations that could not be identified reliably by conventional cytogenetics were successfully resolved by CGH analysis. CGH results were validated by using FISH with chromosome-specific probes. Four cases representing common prenatal numerical aberrations (trisomy 21, 18, and 13 and monosomy X) were also successfully diagnosed by CGH. We conclude that CGH is a powerful adjunct to traditional cytogenetic techniques that makes it possible to solve clinical cases of intricate unbalanced aberrations in a single hybridization. CGH may also be a useful adjunct to screen for euchromatic involvement in marker chromosomes. Further technical development may render CGH applicable for routine aberration screening.

Mesh：

Year: 1995 PMID： 7485173 PMCID： PMC1801381

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

14 in total

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Journal: Prenat Diagn Date: 1994-11 Impact factor: 3.050

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Authors: A Kallioniemi; O P Kallioniemi; D Sudar; D Rutovitz; J W Gray; F Waldman; D Pinkel
Journal: Science Date: 1992-10-30 Impact factor: 47.728

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Authors: J Isola; S DeVries; L Chu; S Ghazvini; F Waldman
Journal: Am J Pathol Date: 1994-12 Impact factor: 4.307

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Journal: Hum Genet Date: 1993-02 Impact factor: 4.132

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Authors: E Blennow; H Telenius; C Larsson; D de Vos; S Bajalica; B A Ponder; M Nordenskjöld
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11 in total

1. Applications of comparative genomic hybridisation in constitutional chromosome studies.

Authors: C J Breen; L Barton; A Carey; A Dunlop; M Glancy; K Hall; A M Hegarty; M T Khokhar; M Power; K Ryan; A J Green; R L Stallings
Journal: J Med Genet Date: 1999-07 Impact factor: 6.318

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Authors: S R Ghaffari; E Boyd; J M Connor; A M Jones; J L Tolmie
Journal: J Med Genet Date: 1998-10 Impact factor: 6.318

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Journal: J Med Genet Date: 1998-01 Impact factor: 6.318

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Authors: B Lomax; S Tang; E Separovic; D Phillips; E Hillard; T Thomson; D K Kalousek
Journal: Am J Hum Genet Date: 2000-03-30 Impact factor: 11.025

7. Scanning all chromosomal abnormalities with microarray-based comparative genomic hybridization in differential diagnosis of pediatric cancers.

Authors: Hulya Tosun Yildirim; Safiye Aktas; Gulden Diniz; Tekincan Cagri Aktas; Burcin Baran; Serdar Bayrak; Zekiye Altun; Yasemin Cakir; Nur Olgun
Journal: Int J Clin Exp Pathol Date: 2019-08-01