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Partial deletion of the long arm of chromosome 2
Chromosome 2q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 2q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.
- Identifiers
- MONDO:0016901 Orphanet:262010
- Part of
- Partial deletion of chromosome 2
- Also known as
- 2q deletion · 2q monosomy · chromosome 2q deletion · deletion 2q · monosomy 2q
Subtypes
Disease
- 2q13 microdeletion syndrome MONDO:0975887
- 2q23.1 microdeletion syndrome MONDO:0016459
- 2q24 microdeletion syndrome MONDO:0015566
- 2q31.1 microdeletion syndrome MONDO:0016652
- 2q33.1 microdeletion syndrome MONDO:0016653
- 2q37 microdeletion syndrome MONDO:0010886
- Mowat-Wilson syndrome due to monosomy 2q22 MONDO:0016855
- Chromosome 2q31.2 deletion syndrome MONDO:0012870
- Chromosome 2q32-q33 deletion syndrome MONDO:0012864
Projects
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