How to Diagnose Bloom Syndrome

A rare genetic disorder, Bloom syndrome is marked primarily by unexplained retardation in both pre-natal and post-natal growth. The condition affects both males and females, putting patients at greatly increased risk for developing cancer. Individuals with Bloom syndrome have a significantly higher rates of childhood and adolescent cancer. Read on to learn how to diagnose Bloom syndrome.

Instructions

Difficulty: Moderately Challenging

1. Treat the presence of a sun-sensitive skin lesions with extreme suspicion. Usually present on the face in a so-called "butterfly pattern," people with Bloom syndrome often have marked dermatological features, though the exact reasons why are not clear.
2. Have a doctor diagnose the root cause of any recurrent infections, particularly pulmonary infections. Diabetes and frequent bouts of pneumonia can also signal a chromosomal abnormality like Bloom syndrome.
3. Diagnose Bloom syndrome pre-natally through cytogenetic diagnostic testing. These tests will draw samples from the fluids found in the womb and tissues connecting the fetus and the mother (such as the umbilical cord or placenta). The samples will then be screened for chromosomal abnormalities, including Bloom syndrome.
4. Know that a doctor may order chemical tests to be performed to diagnose the presence of Bloom syndrome. If, when exposed to a chemical called bromodeoxyuridine, two chromosomes exchange a great deal of genetic material, a diagnosis of Bloom syndrome may be reached.
5. Be aware that a chromosome analysis test, called "karyotyping," will be ordered to confirm a diagnosis or to reach an immediate, conclusive diagnosis in a suspected case. By and large, though, the disease is suspected because of its stark clinical features and confirmed through chromosomal analysis.
6. Find resources to help you cope with the effects of living with Bloom syndrome by searching the patient and family resources pages at Genetics Home Reference. See the Resources section below for a link. A wealth of useful information on rare chromosomal and genetic disorders is available, with links to local groups and support networks for coping with the condition.

Tips & Warnings

• Siblings of a person born with Bloom syndrome have a 25 percent chance of also being affected with the disorder. There is a 50 percent chance that they will carry the recessive gene that causes the disorder, and a one-quarter chance they will remain completely unaffected.
• Be extra vigilant about screening for tumors or growths if you are affected by Bloom syndrome. They frequently occur, even in patients who are not otherwise at high risk of developing cancer.