Class II microdeletion (BP2-BP4)

Clinical description

Class II 1q21.1 microdeletion syndrome includes both the class I deletion and the TAR region (see these pages for more information). Carriers present features of the TAR syndrome (thrombocytopenia and absent radius) and of the class I microdeletion (developemental delay, particular physical features, and cardiac and genitourinary abnormalities). This deletion includes generally 2 Mb of genetic material located between the breakpoints 2 and 4 on chromosome 1 (BP2-BP4).

Notes that little is know about the disease and this is why it's very important for studies to understand how this region can cause difficulties for some individuals carrying a certain rearrangement, and save others with the opposite one.

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