The chromosome: cytogenetic analysis and its clinical application.
Chromosomes are highly structured, dynamic complexes of DNA and protein. The human genome consists of 46 chromosomes (22 paired autosomes and 2 sex chromosomes). Cytogenetic analysis provides a means to identify, as well as describe, chromosomes and disorder-related aberrations. The purpose of this article is to 1) introduce chromosome structure and alterations, 2) describe the technical fundamentals of cytogenetic analysis, and 3) provide a brief overview of the clinical applications of this technology.
Todd
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Department of Oral and Maxillofacial Surgery, Harvard School of Dental Medicine, Boston, MA 02115, USA. randy_todd@hms.harvard.edu
Donoff
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Wong
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DT
D002877:Chromosomes, Human; D019465:Craniofacial Abnormalities / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D012468:Salivary Gland Neoplasms / Q000235:genetics*