Since RTS is usually inherited in an autosomal recessive pattern, affected individuals inherit one abnormal (mutated) gene from each parent. If an individual only has a mutation in one gene, then he/she is a carrier (e.g., parents of RTS patients are carriers). Therefore, at conception there is a 25% chance of the offspring of two carriers to be affected with the disease, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected ("normal" RECQL4 genes).


Mailing Address

Rothmund-Thomson Syndrome Foundation

4307 Woodward Court

Chantilly, VA 20151

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