Definition

Monosomy 7 (loss of the entire chromosome 7) and del(7q) (partial arm loss) are recurrent cytogenetic abnormalities seen in approximately 8 to 10% of de novo MDS and 40 to 50% of therapy-related MDS/AML. Median survival for isolated del(7q) (40.8 months) is significantly better than for isolated monosomy 7 (16 months).

Method

FISH analysis

Accepted sample types

Bone marrow, Blood (heparin)

Description

Diagnosis and monitoring of AML and MDS.

Inheritance

Somatic (acquired); as a rare exception it can arise during clonal evolution in hereditary bone marrow failure syndromes, in which case the underlying predisposition is hereditary while the chromosomal loss itself remains somatic.

Related Tests

Inheritance Patterns

Describes how a genetic condition is passed on within a family. There are five main patterns

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Carrier (Heterozygous / Homozygous)

Why it matters: In autosomal recessive inheritance, when each parent is a carrier (while both appear healthy), the chance of their child being born with the disease is 25% in each

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VUS (Variant of Uncertain Significance)

This is the situation where the test has detected a change in the DNA, but the role of this change in the development of disease is unconfirmed.

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How to Read a Genetic Test Result (Positive / Negative / VUS)

A genetic test result falls into three main categories

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Types of Genetic Tests

A genetic test is a type of medical test that detects changes in genes, chromosomes or proteins. Today there are more than 77,000 genetic tests available.

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