DISCOVERING...

EFFECTS OF

GENETIC

VARIATION
TEAM 7
Mutations are changes in the genetic sequence,

and they are a main cause of diversity among

organisms. These changes occur at many

different levels, and they can have widely

differing consequences. Unfortunately, some

mutations can cause diseases.

WHAT IS
FRAGILE X

SYNDROME?
Fragile X syndrome (FXS), also known as Martin-Bell syndrome, is an

inherited condition that causes developmental delays, intellectual

disabilities, learning and behavioral issues, physical abnormalities,

anxiety, attention-deficit/hyperactivity disorder and/or autism

spectrum disorder, among other problems. It’s the most common form

of inherited intellectual and developmental disability (IDD)

PHYSICAL SYMPTOMS

ELONGATED FACE AND

LARGE EARS BROAD FOREHEAD

STRABISMUS (SQUINT)
PROMINET JAW

HYPOTONIA
HOLLOW CHEST

HOW IS IT INHERITANCE?
Fragile X syndrome is caused by a unique
sequence of DNA in the fragile X gene.

Fragile X syndrome gets its name from the

way that the X chromosome looks under a
microscope: bent and fragile looking.

NORMAL FRAGIL
CHROMOSOME CHROMOSOME

The so-called "CGG triplet" repeats to the

degree that, the DNA sequence becomes
very large and unstable, causing the fragile X
gene to shut down so the gene will not
produce the FMRP protein which supports
brain development.

DNA TEST THERE IS NO CURE REQUIRES PEDAGOGICAL AND

MOST FREQUENT IN

PEDIATRIC BARONS
FUENTES DE INFORMACIÓN: PSYCHOLOGICAL SUPPORT

Asuragen. (2021). Fragile X Syndrome & Testing – Patients & Family. Obtenido de https://my.clevelandclinic.org/health/diseases/5476-fragile-x-

syndrome
Cleveland Clinic. (18 de 05 de 2021). Obtenido de Cleveland Clinic: https://my.clevelandclinic.org/health/diseases/5476-fragile-x-syndrome
Daniel A. Gilchrist, P. (2020). National Human Genome. Obtenido de MUTATION: https://www.genome.gov/genetics-glossary/Mutation
Loewe, D. L. (Nature Education (2018)). Scitable. Obtenido de Genetic Mutation: https://www.nature.com/scitable/topicpage/genetic-mutation-1127/