BLOOM’S SYNDROME Matt Hefner

Bloom’s Syndrome Bloom’s Syndrome is a genetic disorder resulting from a genetic mutation on the 15th chromosome. It Bloom’s Syndrome is a genetic disorder resulting from a genetic mutation on the 15th chromosome. It is most commonly found in members of the Ashkenazi Jewish community, with about one in every one hundred people being carrier of the gene necessary for the disease (around 1%). The disease is inherited as a recessive trait, and the mutated gene responsible for abnormalities is involved with the copying and repairing of genetic information throughout the cells of the body.

Bloom’s Syndrome is characterized by the inability of the proteins in the cells to protect the DNA strands during replication. This results in the chromosomes breaking and rejoining in mutated patterns. Since its discovery, researchers have been able to identify 60 different chromosome mutations. Bloom’s Syndrome is characterized by the inability of the proteins in the cells to protect the DNA strands during replication. This results in the chromosomes breaking and rejoining in mutated patterns. Since its discovery, researchers have been able to identify 60 different chromosome mutations. Causes of Bloom’s

Detection of Bloom’s The only way to determine if an individual is living with Bloom’s Syndrome is though the use of a karyotype, or chromosome study. It is identified by broken or mutated chromosomes in the cells of the individual. Since the inheritance of Bloom’s is dependent on a homozygous recessive genetic outcome, a study of both parents chromosomes would also be an effective way to discover the disease.

Symptoms of Bloom’s The most common and well recognized symptom of Bloom’s Syndrome is a very low prenatal and postnatal size. The individual may show signs of normal growth throughout their younger years, but will rarely grow above five (5) feet tall. The most common and well recognized symptom of Bloom’s Syndrome is a very low prenatal and postnatal size. The individual may show signs of normal growth throughout their younger years, but will rarely grow above five (5) feet tall. Sufferers also exhibit redness of the skin and face which may become disfiguring, the lesions may be mild or even nonexistent in some cases. The skin irritation is a result of sun exposure, but does improve with age.

Bloom Syndrome results in an increased rate of serious respiratory and ear infections which can be lethal. Most common are severe middle ear infections and pneumonia. An increased risk of many different types of cancers at a younger than normal age. This predisposition towards cancer can be explained by the number of mutations that occur in Bloom Syndrome individuals. For individuals with Bloom Syndrome it is common to develop diabetes as well, and the correlation to the genetic mutations is not yet known.

Individuals are generally normal, but mild retardation has been observed. Normally only slight to intermediate learning disabilities exist. Individuals are generally normal, but mild retardation has been observed. Normally only slight to intermediate learning disabilities exist. Sexual growth and puberty occurs at a normal age and is accompanied by normal sexual urges and desires Child bearing is possible for women with the ability to produce non-Bloom offspring; however, menopause occurs at an extremely early age. Men are decidedly sterile.

Treatment of Bloom’s There is currently no treatment for Bloom’s Syndrome. There is currently no treatment for Bloom’s Syndrome. Preventative measures are taken to ensure the best possibilities for life. Due to high risk factors contributing to many different types of cancers, frequent screenings are encouraged. Proper diet and exercise are recommended for prevention of diabetes, and antibiotics are prescribed at the slightest sign of a respiratory or ear infection. Preventative measures are taken to ensure the best possibilities for life. Due to high risk factors contributing to many different types of cancers, frequent screenings are encouraged. Proper diet and exercise are recommended for prevention of diabetes, and antibiotics are prescribed at the slightest sign of a respiratory or ear infection.

Living with Bloom’s Life with Bloom’s is filled with many hardships, from frequent doctors visits to being prescribed multiple preventative medications. On the other hand, individuals with Bloom’s Syndrome have gone on to lead normal lives and even pursue higher education. Life with Bloom’s is filled with many hardships, from frequent doctors visits to being prescribed multiple preventative medications. On the other hand, individuals with Bloom’s Syndrome have gone on to lead normal lives and even pursue higher education. Bloom’s is one of the rarest genetic disorders, with only 170 known instances in history, it is also one of the most harsh to live with, usually causing death by the age of 27. Bloom’s is one of the rarest genetic disorders, with only 170 known instances in history, it is also one of the most harsh to live with, usually causing death by the age of 27.

References Information Albert Einstein Healthcare Network.. German, James L., III. Ashkenazi Disorders Mendelian, Bloom’s Syndrome.. German, James L., III, Maureen Sanz, Eberhard Passarge. Bloom’s Syndrome Foundation,. German, James L., III, Maureen Sanz, Eberhard Passarge. Bloom’s Syndrome Foundation,. Mount Sinai Medical Center, Center For Jewish Genetic Diseases.. Mount Sinai Medical Center, Center For Jewish Genetic Diseases Sanz, Maureen M., James German. Gene Reveiws - Bloom’s Syndrome.. Sanz, Maureen M., James German. Gene Reveiws - Bloom’s Syndrome.. Photographs Photographs