Three de novo losses and one insertion within a pericentric inversion of chromosome 6 in a patient with complete absence of expressive speech and reduced pain perception-Reference-Cited by-同舟云学术

Three de novo losses and one insertion within a pericentric inversion of chromosome 6 in a patient with complete absence of expressive speech and reduced pain perception

Published:2009-01 Issue:1 Volume:52 Page:27-30
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Poot Martin,van't Slot Ruben,Leupert Romina,Beyer Vera,Passarge Eberhard,Haaf Thomas

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference18 articles.

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2. Distinctive phenotype associated with an interstitial loss 6q14 contained within a de novo pericentric inversion 6(p11.2q15);Passarge;Cytogenet. Cell Genet.,2000

3. Array-CGH fine mapping of minor and cryptic HR-CGH detected genomic imbalances in 80 out of 590 patients with abnormal development;Lybæk;Eur. J. Hum. Genet.,2008

4. Systematic characterization of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes;Wirth;J. Med. Genet.,1999

5. De novo t(7;10)(q33;q23) translocation and closely juxtaposed microdeletion in a patient with macrocephaly and developmental delay;Yue;Hum. Genet.,2005

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