A member asked:

Cow could i tell if someone has fragile x syndrome?

2 doctors weighed in across 2 answers
Dr. Christopher Calendine answered

Specializes in Pediatrics

Genetic Testing: Many infants and children with fragile x have no distinct physical features. As teens characteristics can develop such as a longer face/jaw and larger, more noticeable ears. Most do not grow as tall as their peers, tend to have hyperflexible joints. Many people with fragile x have impaired intellectual functioning. Definitive diagnosis is made with genetic testing (usually a blood test).

Answered 12/29/2016

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Dr. Johanna Fricke answered

Specializes in Pediatrics - Developmental and Behavioral

As Dr. C answered,: The fact that young children often don't have "classical" features of fxs has led to a standard of practice that includes ordering comparative genomic hybridization & a dna probe for fragile x in all boys & girls with developmental delays /intellectual disabilities, autistic spectrum disorders, or both. See more, plus a list of labs that do the testing , at www.Fragilex.Org.

Answered 12/8/2012

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