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What is a chromosome 4q deletion?

Unique is extremely grateful to the families who completed the questionnaire. A chromosome 4q deletion is a rare genetic condition in which there is a missing copy of part of the genetic material that makes up one of the body’s 46 chromosomes.

What are the symptoms of a 4q distal deletion?

Typically, people with a 4q distal deletion have small hands and apart from those with a 4q35qter deletion, the fifth finger of one or both hands has a characteristic form. It is short, with no creases at the joints, it does not bend and the nail is oddly formed, sometimes appearing on both the front and back of the finger.

What causes monosomy 4Q?

Chromosome 4, Monosomy 4q is caused by a partial deletion of the long arm of chromosome 4. The severity and type of abnormalities depend on the size and location of the missing chromosomal piece.

What are terminal and interstitial deletions?

In this leaflet, terminal deletions are referred to in this way: 4q31.3qter. This shows that the breakpoint is at 4q31.3. Interstitial deletions are referred to in this way: 4q32q34 deletion. This shows that the two breakpoints are at 4q32 and 4q34 and the segment between these breakpoints is missing. 3 Main features

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