High resolution microarray CGH and MLPA analysis for improved genotype/phenotype evaluation of two childhood genetic disorder cases: ring chromosome 19 and partial duplication 2q-Reference-Cited by-同舟云学术

High resolution microarray CGH and MLPA analysis for improved genotype/phenotype evaluation of two childhood genetic disorder cases: ring chromosome 19 and partial duplication 2q

Published:2005-07 Issue:3 Volume:48 Page:310-318
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Hermsen Mario A.J.A.,Tijssen Marianne,Acero Ines Hernando,Meijer Gerrit A.,Ylstra Bauke,Toral Joaquín Fernández

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference28 articles.

1. Case of partial duplication 2q3 with characteristic phenotype: rare occurrence of an unbalanced offspring resulting from a parental pericentric inversion;Angle;Am. J. Med. Genet.,2000

2. Chromosome 2q duplications: case report of a de novo interstitial duplication and review of the literature;Bird;Am. J. Med. Genet.,2001

3. Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q;Bonaglia;Eur. J. Hum. Genet.,2000

4. High resolution microarray-CGH analysis using spotted oligonucleotides;Carvalho;Mol. Pathol.,2004

5. De novo inversion duplication of 2q35-2qter without growth retardation;Dahoun-Hadorn;Ann. Genet.,1992

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