Fluorescence in situ hybridization (FISH) for Monosomy 7 is a diagnostic test used to detect the loss of one copy of chromosome 7 in cells. Monosomy 7 is a chromosomal abnormality where there is only one copy of chromosome 7 instead of the usual two. This condition is linked to various clinical manifestations and is seen in certain cancers and developmental disorders. FISH is employed to visualize the chromosomes in cells using fluorescent probes that bind to specific regions of chromosome 7.
Chromosome 7 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 7 spans about 159 million base pairs and represents between 5 and 5.5 percent of the total DNA in cells. Several genes located on chromosome 7 are vital for normal growth and development, and therefore, the loss of genetic material from this chromosome can have serious consequences.
Monosomy 7 is commonly associated with hematologic malignancies, including myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). It is also linked to other disorders, such as juvenile myelomonocytic leukemia (JMML).
In FISH for Monosomy 7, samples of blood, bone marrow, or tissue are collected and fixed onto slides. The DNA in the sample is denatured and fluorescent probes specific to chromosome 7 are added. These probes bind to regions on chromosome 7, and the slides are examined under a fluorescence microscope. Normally, two fluorescent signals are expected for chromosome 7. In Monosomy 7, only one signal will be observed.
Monosomy 7 is clinically significant, particularly in hematological disorders. In MDS and AML, the presence of Monosomy 7 or deletion of a part of chromosome 7 is indicative of a high-risk category and is associated with a poorer prognosis.
In children, Monosomy 7 is often associated with JMML. This is a serious condition that requires aggressive treatment, often in the form of bone marrow transplantation.
In cases of developmental disorders, Monosomy 7 can be linked to intellectual disabilities, growth retardation, and various congenital anomalies.
The treatment of Monosomy 7 depends on the underlying condition it is associated with. In the case of hematological malignancies, chemotherapy and bone marrow transplantation may be utilized. The approach for developmental disorders may involve educational support, physical therapy, and other supportive treatments.
Test NameFISH for Monosomy 7
Sample TypeBlood, Bone Marrow, Tissue
Preparations RequiredNo special preparation is needed for this test.
Report Time5 days
What does a positive result mean in FISH for Monosomy 7?
A positive result indicates that only one copy of chromosome 7 is present in the cells analyzed, which is abnormal.
What kind of disorders is Monosomy 7 associated with?
Monosomy 7 is mainly associated with hematological malignancies such as MDS, AML, and JMML. It may also be linked to developmental disorders.
Home Sample Collection Process
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Book your convenient slot
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Sample Collection by Phlebotomist
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Reporting of the sample at lab
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Frequently Asked Questions
Monosomy 7 is typically not inherited but is acquired, meaning it develops during a person’s lifetime. However, there are rare cases of familial Monosomy 7.
Yes, Monosomy 7 can be detected prenatally through tests such as chorionic villus sampling or amniocentesis.
The symptoms of Monosomy 7 vary depending on the associated condition. In hematologic malignancies, it might involve fatigue, infections, and easy bruising or bleeding. In developmental disorders, it could involve intellectual disability, growth retardation, and physical anomalies.
Treatment depends on the underlying disorder. Hematological malignancies might require chemotherapy or stem cell transplant, while developmental disorders are managed supportively.
There is no cure for Monosomy 7, but treatments can sometimes be effective in managing the symptoms or slowing the progression of the associated disease.
Yes, Monosomy 7 can develop later in life, especially in cases of hematological malignancies.
The prognosis varies widely depending on the underlying condition, but in hematologic malignancies, it is generally poor.
Consultation with a healthcare provider is necessary. They may recommend a FISH for Monosomy 7 test based on clinical symptoms and family history.
FISH for Monosomy 7 is an important diagnostic tool for the detection of Monosomy 7 in cells. It is vital in diagnosing, managing, and understanding the prognosis of various diseases, especially hematological malignancies. It is important to consult healthcare providers for advice and information regarding this test and its implications.
