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Genetics/Blooms Syndrome


QUESTION: What is the scientific name for Blooms Syndrome?
Where did it originate?
Where did it come from?


Bloom or Bloom's syndrome also known as Bloom–Torre–Machacek syndrome. It's scientific name is congenital telangiectatic erythema.
Bloom syndrome is a very rare in most populations, and its overall frequency is unknown. It is is more common in people of Central and Eastern European (Ashkenazi) Jewish background, among whom about 1 in 50,000 are affected. Approximately one-third of people with Bloom syndrome are of Ashkenazi Jewish descent. It probably originated in Polish Jews.

Mutations in the BLM gene cause Bloom syndrome. The BLM gene provides makes a protein that is a member of RecQ helicases. These enzymes bind to DNA and temporarily unwind the two spiral strands (double helix) of the DNA molecule to get ready for DNA replication prior to cell division, These proteins are also known as the "caretakers of the genome."

1. Genetics Home Reference
2. Genet Test. 1998;2(4):293.



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QUESTION: Is this disorder deadly?
Is it sexlinked?
What chromosome does this disorder effect?

Hi Rod,

The disease is not acute but has a high risk for various diseases. Affected individuals may develop dilated blood vessels and reddening in the skin, in response to sun exposure.
People with Bloom syndrome have an increased risk of cancer. They can develop any of the cancers, but the cancers arise unusually early in life, and affected individuals often develop more than one type of cancer.
Individuals with this disorder often have a high-pitched voice and distinctive facial features including a long, narrow face; a small lower jaw; a large nose; and prominent ears. Other features affecting some people with Bloom syndrome include learning disabilities, an increased risk of diabetes, chronic obstructive pulmonary disease (COPD), and recurrent infections of the upper respiratory tract, ears, and lungs during infancy. Men with Bloom syndrome usually do not produce sperm, and as a result are unable to father children (infertile). Women with the disorder generally have reduced fertility and experience menopause earlier than usual.

It is not sex linked. The gene BLM is located in chr. 15q26.1




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Thanemozhi Natarajan


Answers in Genetics, genomics, cytogenetics of syndromes, congenital anomalies, cancer, clinical genomics and interpretation of omics data.


More than 10 years. Doctoral research thesis on Congenital anomalies and cytogenetics, Recurrent reproductive failure and chromosomal abnormalities. Postdoctoral experience in Breast cancer research. Current: Clinical Genomics and Pharmacogenomics.


Cancer Cell International, Cancer Epidemiology Biomarkers and Prevention, Breast cancer research and treatment, Indian Journal of Pediatrics, BMC Proceedings, Pharmacogenetics and Genomics, Human Molecular Genetics, Frontiers in Genetics, Cancer Biomarkers.

PhD Biomedical Genetics

Awards and Honors
University Grants Commission Award for pursuing PhD level research (India); Travel awards to attend conferences.

Past/Present Clients
Post doctoral experience Cancer research, molecular epidemiology Current: Clininical Genomics and Pharmacogenomics

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