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Wayback Machine
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The Wayback Machine - https://web.archive.org/web/20070126232310/http://homepage.mac.com:80/wildlifeweb/cyto/human/
Human Cytogenetics

Karyotypes


Human

Homo sapiens Linnaeus, 1758
Diploid Number: 46


File: GIF; Photo: David McDonald, Laboratory of Pathology of Seattle

Human Chromosomes and Karyotypes:

46,XYG-banded karyotype - 550 band level

composite karyotype created from 5 chromosome spreads
Courtesy of David McDonald, Laboratory of Pathology of Seattle

46,XXG-banded karyotype and correspondingchromosome spread

Courtesy of David McDonald, Laboratory of Pathology of Seattle

46,XYG-banded karyotype and correspondingchromosome spread

Courtesy of David McDonald, Laboratory of Pathology of Seattle


Ideograms

Click on a number or letter to select the corresponding ideogram.

1 |2 |3 |4 |5 |6 |7 |8 |9 |10 |11 |12 |13 |14 |15 |16 |17 |18 |19 |20 |21 |22 |X |Y

G-banded and R-banded ideograms were created by Tim Knight, founder of theScientific Imaging Lab at the Fred Hutchinson Cancer Research Center in Seattle.


Materials & Methods

It is often difficult to find a comprehensive description of the materials andmethods used for cytogenetic study due to the page limitations of journals. Mostauthors reference other publications to make their descriptions brief, but oftentheir own modifications to old techniques are not included in the text. I havetherefore included examples and detailed descriptions of the followingtechniques:

Web Sites on Genetics

  • Access Excellence - Access Excellence, launched in 1993, is a national educational program that provides high school biology and life science teachers access to their colleagues, scientists, and critical sources of new scientific information via the World Wide Web.

  • The Association of Clinical Cytogeneticists - The ACC is the professional organisation representing Clinical Cytogeneticists and the study of Clinical Cytogenetics in the U.K.

  • Association of Genetic Technologists - The Association of Genetic Technologists, Inc. (AGT), founded in 1975, is a non-profit professional organization established to promote cooperation and exchange of information among those engaged in classical cytogenetics, molecular and biochemical genetics, and to stimulate interest in genetics as a career.

  • Atlas of Genetics and Cytogenetics in Oncology and Haematology- A cooperative process of reviewing and updating on somatic genetics,clinical entities in cancer, and on cancer-prone diseases, with the aim ofcovering the entire field under study.

  • Biology Labs On-Line - Biology Labs On-Line offers a series of interactive,inquiry-based biology simulations and exercises designedfor college and AP high school biology students. The site includes the Virtual FlyLab that allows you play the role of a research geneticist. The philosophy behind the development Virtual FlyLab is to allow students to learn the principles of genetic inheritance through the design and analysis of genetic "experiments."

  • The Biology Project - The Biology Project is an interactive online resource for learning biology developed at The University of Arizona. The Biology Project is fun, richly illustrated, and tested on 1000s of students. It has been designed for biology students at the college and high school level, butis useful for medical students, physicians, science writers, and all types ofinterested people.

  • The Biology Project - Karyotyping Activity - This exercise is a simulation of human karyotyping using digital images of chromosomes from actual human genetic studies. You will be arranging chromosomes into a completed karyotype, and interpreting your findings just as if you were working in a genetic analysis program at a hospital or clinic.

  • The Biology Project - New Methods for Karyotyping - The new karyotyping methods introduced by Schrock et al use fluorescent dyes that bind to specific regions of chromosomes. By using a series of specific probes each with varying amounts of the dyes, different pairs of chromosomes have unique spectral characteristics. The spectral karyotype has been used to detect translocations not recognizable by traditional banding analysis.

  • The Biology Project - Human Genetics Problem Set - Apply your knowledge of Mendelian Genetics to humans, and learn about constructing pedigrees, mapping chromosomes, and genetic disorders.

  • British Society for Human Genetics - Founded in 1996, the British Society for Human Genetics is a forum for professionals working in all aspects of human genetics, from cutting edge research to the delivery of genetics services to the population of the UK.

  • Comparative Genomic Hybridization (CGH) - CGH is a molecular cytogenetic method of screening a tumor for genetic changes. The alterations are classified as DNA gains and losses and reveal a characteristic pattern that includes mutations at chromosomal and subchromosomal levels. This site includes CGH Images, Protocols, Tumor Database, Publications, and Links.

  • The Genetics Society - The Genetics Society is a `learned society' whose membership of over 2,000 consists of most of the UK's active professional geneticists, including teachers, researchers and students.

  • Genetics Education Center - Genetics Education Center at University of Kansas Medical Center is for educators with an interest in human genetics and the human genome project.

  • Genetics Virtual Library - covering the Human Genome Project and a wide variety of species

  • Human Genome Project Information - Begun in 1990, the U.S. Human Genome Project is a 13-year effortcoordinated by the Department of Energy and the National Institutes ofHealth. The project originally was planned to last 15 years, buteffective resource and technological advances have accelerated thecompletion date to 2003.

  • Human Genome Project Science - The Science Behind the Human Genome Project. Basic Genetics, Genome Draft Sequence, and Post-Genome Science

  • Human Idiogram Album - download human idiograms provided by David Adler, Ph.D.

  • Mendel Web - MendelWeb is an educational resource for teachers and students interested in the origins of classical genetics,introductory data analysis, elementary plant science, and the history and literature of science.

  • Genetic Science Learning Center - The Genetic Science Learning Center helps people understand genetic science and how it relates to their lives and society. The Center provides excellent genetic science curriculum, training, and resources through a virtual and actual presence.

  • RWJMS Human Genetics course - This course is part of the first year academic schedule for Robert Wood Johnson Medical School of the University of Medicineand Dentistry of New Jersey. This will also serve as a link to other related sites on the internet which the medical student might findhelpful.

  • The Genetics Education NEtwork (GENE) - Dedicated to rescuing teachers and other students from terminalboredom by helping them do real science with modern research organisms.

  • The Human Transcript Map: A Gene Map of the Human Genome - The Human Genome Project is expected to produce a sequence of DNA representing the functional blueprint and evolutionary history of the human species. However, only about 3% of this sequence is thought to specify the portions of our 50,000 to 100,000 genes that encode proteins. Approximately half of all human genes had been sampled as of 15 June, 1996.

  • The Human GeneMap 1999 - The Human Genome Project is entering its climactic phase that willresult, as early as 2003, in a complete and accurate DNA sequencerepresenting the genetic blueprint and evolutionary history of the humanspecies.

  • UW Department of PathologyCytogenetics Resources - includes human chromosomes and ideograms

  • UW Department of Pathology Cytogenetics Image Gallery - karyotypes of various human chromosome abnormalities.







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