Rose's condition
Rose suffers from an unbalanced translocation between chromosomes 4 & 10, this has led to her being unable to talk to date. The only time she has vocalised has been in the presence of animals, which led to her nickname of 'Miss Doolittle'.
Rose is the only person in the world known to suffer from her particular genetic abnormality. Rose is also diagnosed with Severe Learning Difficulties, Developmental Delay & Autism.
Rose's mum, Esme, has reciprocal translocation involving the long arm of chromosome 4 and the long arm of chromosome 10. This means that a small piece of the bottom of chromosome 4 has swapped places with a small piece at the bottom of chromosome 10. In Esme, this has not caused any problems, as all the chromosome material is present.
However Rose has inherited the translocation chromosome 4 but the normal chromosome 10 from her mother and this means that she has a small missing piece of chromosome 4 and a small extra piece of chromosome 10.
Specifically, Rose has karotype 46,XX,der(4)t(4;10)(q35.1)q26.1)mat. This means that Rose has lost the tip of the long arm (q) of one of her two copies of chromosome 4 to give her a deletion (4)(q35.1->qter). In place of this missing tip, she has also gained an extra copy of the tip of the long arm of chromosome 10 to give her a duplication (10)(q26.1->qter).)
