Diagnosis. Bloom syndrome is diagnosed using any of three tests – the
presence of quadriradial (Qr, a four-armed chromatid interchange) in cultured blood lymphocytes
, and/or the elevated levels of sister chromatid exchange in cells of any type, and/or the mutation in the BLM gene.
How do you test for Bloom syndrome?
The diagnosis of Bloom syndrome (congenital telangiectatic erythema) can be confirmed or excluded by
a laboratory test known as a chromosome study
; blood and skin cells show a characteristic pattern of chromosome breakage and rearrangement.
How is Bloom syndrome diagnosed and treated?
Bloom syndrome is
diagnosed based on the symptoms, clinical exam, and confirmed by the results of genetic testing
. Sometimes, cytogenetic testing, a blood test to look at a person’s chromosomes , is done to look for features characteristic of Bloom syndrome.
What are the symptoms of Bloom syndrome?
Small clusters of enlarged blood vessels may appear in the rash and in the eyes
. Other signs and symptoms include patches of skin that may be lighter or darker than the skin around them, a small jaw and large ears, a high-pitched voice, fertility problems, learning problems, and other growth and developmental problems.
How many people have been diagnosed with Bloom syndrome?
The incidence of Bloom syndrome is unknown, and
fewer than 300 affected individuals
have been reported. Approximately one-third of people with the disease are of Ashkenazi Jewish descent, making it more common in this population than in others. Roughly 1 in 48,000 Ashkenazi Jews is affected by the disease.
Can Bloom syndrome be treated?
Although
there is currently no treatment aimed
at the underlying genetic abnormality, persons with Bloom’s syndrome benefit from sun protection, aggressive treatment of infections, surveillance for insulin resistance, and early identification of cancer.
What does Bloom syndrome look like?
Bloom syndrome (BSyn) is a rare genetic disorder characterized by
short stature
; a sun-sensitive, red rash that occurs primarily over the nose and cheeks; mild immune deficiency with increased susceptibility to infections; insulin resistance that resembles type 2 diabetes; and most importantly, a markedly increased …
What is Watson’s disease?
Watson syndrome is
an autosomal dominant condition characterized by the presence of pulmonary valvular stenosis, cafe au lait spots, and mild mental retardation
. These features are also sometimes observed in neurofibromatosis type 1 (NF1). It has been suggested that Watson syndrome is caused by mutations in NF1 gene.
Who gets Bloom syndrome?
This condition is more in people
of Ashkenazi Jewish descent
, and it has been estimated that about one in 270 people in this group are carriers for Bloom syndrome.
What is the life expectancy of someone with Bloom syndrome?
There are fewer than 200 known surviving cases of Bloom syndrome worldwide. Lifespan is limited;
the average age of death is 27 years
.
Why do Ashkenazi have genetic diseases?
Researchers think Ashkenazi genetic diseases arise
because of the common ancestry many Jews share
. While people from any ethnic group can develop genetic diseases, Ashkenazi Jews are at higher risk for certain diseases because of specific gene mutations.
What does Gaucher disease affect?
It is a disorder passed from parents to children (inherited). It
causes fatty substances called lipids to build up in certain organs such as the spleen and liver
. Organs can become very large and not work well. It can also affect the lungs, brain, eyes, and bones.
How do you know if you have Li Fraumeni syndrome?
If health care providers or genetic counselors suspect a person has Li-Fraumeni syndrome, diagnostic testing may take place:
A blood sample is collected
. DNA is isolated from the cells in the sample, and the TP53 gene is checked for possible mutations using a variety of methods such as DNA sequencing.
Can you have an XXY chromosome?
Klinefelter syndrome
is a genetic condition in which a boy is born with an extra X chromosome. Instead of the typical XY chromosomes in men, they have XXY, so this condition is sometimes called XXY syndrome.
What causes Cockayne syndrome?
Mutations in ERCC6 account
for about 75% of cases, while mutations in ERCC8 cause about 25% of cases. Cockayne Syndrome is inherited as an autosomal recessive genetic trait. Human traits, including the classic genetic diseases, are determined by two genes, one received from the father and one from the mother.
What is Nijmegen breakage syndrome?
Description. Collapse Section. Nijmegen breakage syndrome is a
condition characterized by short stature
, an unusually small head size (microcephaly ), distinctive facial features, recurrent respiratory tract infections, an increased risk of cancer, intellectual disability, and other health problems.
