Microdeletion syndromes

Gopalrao V Velagaleti, Nancy J. Carpenter

Producción científica: Chapter

Resumen

Chromosome rearrangements that result in interstitial or terminal deletions or unbalanced translocations lead to disturbances in gene dosage. The rearrangements may be relatively large, one to several million bases in length, and involve a large number of genes. Disorders in which loss of multiple genes at closely linked loci result in diverse phenotypic effects are known as microdeletion or contiguous gene syndromes.

Idioma originalEnglish (US)
Título de la publicación alojadaGenetics of Developmental Disabilities
EditorialCRC Press
Páginas521-583
Número de páginas63
ISBN (versión digital)9780849348020
ISBN (versión impresa)0824758137, 9780824758134
EstadoPublished - ene 1 2005
Publicado de forma externa

ASJC Scopus subject areas

  • General Medicine
  • General Biochemistry, Genetics and Molecular Biology

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