Genetic Diseases

How is PGD Done?
First done in 1988, preimplantation genetic diagnosis (PGD) allows couples undergoing in vitro fertilization (IVF) for infertility to screen their embryos for a host of genetic diseases and disorders.
Klinefelter's Syndrome
Klinefelter\'s syndrome is found in approximately 1 of 700 men, i.e. there are approximately 3600 boys and men with Klinefelter\'s syndrome in Denmark with 5 million inhabitants. Men usually have but one X and one Y chromosome, i.e. the chromosomeconstitution 46,XY. Men with Klinefelter\'s syndrome have more than one X chromosome, usually two X chromosomes, i.e. the chromosome constitution 47,XXY.
What is Klinefelter Syndrome?
In 1942, Harry Klinefelter, Fuller Albright, and their coworkers at the Massachusetts General Hospital published a report about 9 men who had enlarged breasts, sparse facial and body hair, small testes, and the inability to produce sperm. This combination of features has come to be recognized as Klinefelter syndrome.
Jewish Genetic Diseases: A Guide
The first step towards unraveling the mysteries behind genetic disorders is to find the problem genes. Many defective genes have been identified and work is ongoing to discover feasible methods for \"cures\". While investigations of genetic treatments continue, people are in a position to begin using the current facts for their benefit.
Chicago Center for Jewish Genetic Disorders
The Chicago Center for Jewish Genetic Disorders is a critical effort to provide public and professional education and to empower community members to seek out information and prevention strategies. With its current set of sponsors, the Center represents the blending of science with religious, cultural and historical sensitivity and awareness. The Center seeks to become the voice that translates laboratory discoveries into accessible information for the Jewish community at risk as well as for physicians and other health care providers.
Mount Sinai School of Medicine Center for Jewish Genetic Diseases
The Center for Jewish Genetic Diseases at The Mount Sinai Medical Center in New York City is the first center in the world devoted to the study of diseases that affect Ashkenazi Jews. Established in 1982, the Center has a twofold mission: 1) to improve the diagnosis, treatment, and counseling of patients and their families suffering from Jewish genetic diseases and 2) to conduct intensive research to combat these inherited diseases.
Chromosome abnormalities
Chromosome abnormalities involve the gain, loss or rearrangement of visible amounts of genetic material.
Chromosomal Abnormalities - Quick Reference and Fact Sheets
Chromosomal Abnormalities About 1 in 200 babies is born with a chromosomal abnormality. Down syndrome, in which a baby is born with an extra chromosome 21, is among the most common chromosomal abnormalities, and the one whose effects are familiar to most people. Children with Down syndrome have varying degrees of mental retardation, characteristic facial features and, often, heart defects and other problems.
Chromosome Abnormalities Fact Sheet
Chromosomes are the structures that hold our genes. Genes are the individual instructions that tell our bodies how to develop and function; they govern our physical and medical characteristics, such as hair color, blood type and susceptability to disease.
This is a simplified introduction to chromosomes and chromosome abnormalities. It is to be used only for education purposes and not for the medical care of an individual. All information should be reviewed with your health care provider.

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