|
Bloom's
Syndrome
·
·
·
·
·
· Resources
and More
· Support Groups
Description
Bloom's Syndrome is an autosomal recessive genetic disease, which means
that both parents must be carriers of the gene and pass it to the next
generation. Individuals with Bloom's Syndrome have an unusually high
number of breaks along their chromosomes. (A chromosome is the structure
in our body that contain DNA-genetic material.)
Symptoms
Affected Individuals, who have Bloom's Syndrome, typically have the
following physical characteristics:
· Short stature
· A narrow face with prominent
nose
· Skin color changes in the face.
Change more noticeable after sunlight exposure
· Butterfly-shaped facial rash,
similar to rash caused by Lupus Erythematosis
· A high pitched voice
· An increased susceptibility to
infections and respiratory illness
· An increased susceptibility to
cancer and leukemia
· Some may also have mental
retardation
Incidence and Carriers
Disease Frequency: Unknown
Carrier Frequency: 1 in 110 Ashkenazi Jews
Males with Bloom's Syndrome are usually infertile, and some women with
Bloom’s Syndrome have fertility problems.
Treatment
There is no treatment for the underlying cause of Bloom’s syndrome, and
therefore medical intervention is primarily preventative. Adults with
Bloom’s syndrome should be more attentive and cautious than others in
their surveillance for cancer. It is recommended that people afflicted
by this disease maintain close contact with a physician familiar with
Bloom’s. This way, with the doctor’s assistance, pay attention to in
case of an emergence of symptoms that may signal or indicate a treatable
pre-cancerous condition.
Testing
Diagnosis: by clinical features and
confirmed by chromosome analysis.
Carrier-Screening: This test requires a sample of blood. The tests can
determine whether or not a gene change is present in the gene for
Bloom's Syndrome. It is possible to detect the specific gene change that
is seen in Ashkenazi Jews with Bloom Syndrome. The test is not as
accurate for individuals who are from other ethnic background.
Prenatal-Screening: This can be attained with the use of CVS (chorionic
villus sampling) or amniocentesis, which are performed early in the
pregnancy.
Resources and More
•
Mount Sinai School of Medicine
Diagnostic Testing Laboratory
Tel: 212-241-6947
•
Genzyme Genetics Molecular
Diagnostic Laboratory
Tel: (800) 255-7357
•
LabCorp Molecular Biology
Tel: (800) 345-4363
•
Quest Diagnostics, Inc.
Molecular Genetics Laboratory
Tel: (800) 642-4657
•
The Victor Outreach and
Screening Program for Ashkenazi Jewish Genetic Diseases of
•
Tufts Medical Center
James
L. German III, MD
The New York Blood Center
Laboratory of Molecular Genetics
310 East 67th Street
New York, NY 10021
(212) 570-3075 (voice)
Support
Groups
The Milo Gladstein Foundation for Bloom's Syndrome
7095 Hollywood Blvd #583
Los Angeles CA 90028
Email:
info@milogladsteinfoundation.org
www.milogladsteinfoundation.org
Chicago Center for Jewish Genetic Disorders
Ben Gurion Way
One South Franklin Street Fourth Floor
Chicago IL 60606
Phone: 312-357-4718
Fax: 312-855-3295
Email:
jewishgeneticsctr@juf.org
www.jewishgeneticscenter.org
Xeroderma Pigmentosum Society, Inc (XP Society)
XP Society has material on their site related to UV
protection/avoidance.
437 Syndertown Road
Craryville NY 12521
Phone: 877-XPS-CURE (877-977-2873); 518-851-2612
Email: Email:
xps@xps.org
www.xps.org
Bloom's Syndrome Registry
Cornell University Medical College
1300 York Avenue
New York NY 10021
Phone: 212-746-3956; 516 678-5000x6217
Email:
jlg2003@mail.med.cornell.edu;
msanz@molloy.edu
|
