Trisomy Disorders

Distal Trisomy 10q

Posted on: October 30, 2008

Distal Trisomy 10q

What is Distal Trisomy 10q? Distal Trisomy 10q is an extremely rare syndrome in which a person has an extra end (distal) portion of chromosome 10, specifically from the long arm (q). This can occur spontaneously at conception (de novo), or most commonly, from a translocation in one of the parents. In the latter case, one of the parents has the tails of chromosome 10 and another chromosome swapped. The parent has a full set of genes, but when the child gains one half of these chromosomes from the affected parent, the child ends up with an unbalanced set of genes. The effect on the child can vary from mild to very severe and is related to how many extra genes are present from 10q. Additionally, in translocation cases, there are generally missing genes from the complimentary chromosome of the translocation. See the images of chromosome 10q.

For more information:

Distal Trisomy 10q Families

Trisomy Listserv

Other readings:

Distal trisomy 10q/partial monosomy 14q: an unusual clinical picture.

Distal trisomy 10q and limb defects

Distal 10q trisomy associated with bilateral hydronephrosis in infancy

Distal trisomy of 10q. Report of a new case of duplication 10q25.2-25.3–>qter defined by FISH

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