Frequently
Asked Questions (FAQs)
1. What is PTLS?
Dup 17p11.2 syndrome is a rare genetic disorder in which
individuals carry an extra copy of a tiny portion of chromosome
17.
2. What causes PTLS?
The duplication on chromosome 17p is caused by an error
that happens during the formation of the egg or sperm. There
is nothing that a parent might have done to cause this condition,
nor is there anything that a parent could have done to prevent
the error from occurring.
3. What should I expect in the future for my child
with PTLS?
Every individual with PTLS is unique and it is impossible
to know exactly what to expect. However, most individuals
will have some degree of developmental delay, primarily speech
delay. In addition, many individuals display some behaviors
similar to those seen in patients with autism spectrum disorders.
4. Does this mean that my child with PTLS will
have autism?
No, but they might show some features such as difficulty
with interpersonal skills, repetitive behaviors, or other
unusual behaviors. Only a detailed psychological evaluation
can determine whether your child has features that are consistent
with the diagnosis of autism or an autism-spectrum disorder.
5. Is there a cure for PTLS?
Because the duplication of genetic material exists in every
cell of the body, there is no way to “cure” the
syndrome at present. However, physical / occupational / speech
therapy can help children overcome some of the developmental
delays. As more patients are evaluated with PTLS, the hope
is that we will develop specific educational interventions
to improve communication skills in persons with PTLS. If
significant cardiac defects or sleep apnea are detected,
these can often be treated medically or surgically.
6. Are other family members at risk for having
a child with PTLS?
This question can only be answered by your geneticist or
genetic counselor. In most cases, PTLS occurs only in the
affected child and there is a very low risk of recurrence
in the family. However, in a small fraction of cases an otherwise
unaffected parent can be found to have a rearrangement of
the 17p11.2 region. In this case, the recurrence risk would
be higher and the parents should receive detailed genetic
counseling. As with many genetic syndromes, we recommend
for parents to be tested for their child’s duplication
in order to provide the most accurate recurrence risk counseling.
7. Where can I get more information about PTLS?
Since this syndrome has only recently been described, physicians
are still in the process of learning about it. If you would
like to share information with your primary physician, we
will provide you with a reprint of our recently published
article upon request. Joining the family support group is
also a great way to share information and ideas.
8. How can I help?
We have established a clinical research protocol and a molecular
research protocol at Texas Children’s Hospital in order
to learn more about dup 17p11.2 syndrome. Please feel free
to contact our study coordinator for more details.
Patricia Robbins-Furman, B.S., M.P.H., C.G.C
Genetic Counselor
Molecular and Human Genetics
Phone: 832-822-4280
Fax: 832-825-4296
E-mail:
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