Podcast
Questions and Answers
A child is diagnosed with Fragile X syndrome. Genetic testing reveals a mutation in the FMR1 gene. What type of inheritance pattern is most likely responsible for this condition?
A child is diagnosed with Fragile X syndrome. Genetic testing reveals a mutation in the FMR1 gene. What type of inheritance pattern is most likely responsible for this condition?
- X-linked recessive
- X-linked dominant (correct)
- Autosomal recessive
- Autosomal dominant
Which of the following is a common clinical manifestation observed in individuals with Fragile X syndrome?
Which of the following is a common clinical manifestation observed in individuals with Fragile X syndrome?
- Unusually small head circumference
- Intellectual disability (correct)
- Below average height
- Decreased joint mobility
A family seeks genetic counseling because they have a history of Fragile X syndrome. Which of the following would be the most appropriate initial step in assessing their risk?
A family seeks genetic counseling because they have a history of Fragile X syndrome. Which of the following would be the most appropriate initial step in assessing their risk?
- FMR1 gene testing of the mother (correct)
- Analysis of mitochondrial DNA
- Testing for Y-linked genes
- Karyotype analysis of all family members
What is the underlying cause of Fragile X syndrome?
What is the underlying cause of Fragile X syndrome?
Which of the following inheritance patterns best describes neurofibromatosis?
Which of the following inheritance patterns best describes neurofibromatosis?
Neurogenic tumors, a characteristic of neurofibromatosis, originate from which type of cells?
Neurogenic tumors, a characteristic of neurofibromatosis, originate from which type of cells?
What is the primary focus of treatment for individuals diagnosed with Fragile X syndrome?
What is the primary focus of treatment for individuals diagnosed with Fragile X syndrome?
Which of the following is NOT typically associated with Fragile X syndrome?
Which of the following is NOT typically associated with Fragile X syndrome?
A patient presents with multiple neurogenic tumors. Which type of neurofibromatosis is most common?
A patient presents with multiple neurogenic tumors. Which type of neurofibromatosis is most common?
What is the significance of identifying males as carriers in the context of Fragile X syndrome?
What is the significance of identifying males as carriers in the context of Fragile X syndrome?
Flashcards
Fragile X Syndrome
Fragile X Syndrome
X-linked dominant disorder associated with FMR1 on the X chromosome.
Neurofibromatosis
Neurofibromatosis
Neurogenic tumors arising from Schwann cells and similar cells.
Male Carriers
Male Carriers
When males can carry the specific condition.
Study Notes
- Review topics for Chapters 1 & 2
- These notes guide content but reviewing both chapters from the course textbook is expected
Fragile X Syndrome
- X-linked dominant disorder associated with FMR1 on the X chromosome
- Males can be carriers
Clinical Manifestations:
- Intellectual, behavioral, and learning disabilities
- Prominent jaw and forehead
- Autism spectrum disorders
Treatment:
- Genetic counseling, behavioral, and psychological support
- Physical, speech, and occupational therapy
Key physical characteristics
- Elongated face and broad forehead
- Large, protruding ears
- Prominent lower jaw
- Mental problems
- Increased joint mobility
- Macroorchidism
Neurofibromatosis
- Autosomal dominant
- Neurogenic tumors arise from Schwann cells and similar cells
- Type 1 neurofibromatosis is the most common
- Type 2 neurofibromatosis
- Schwannomatosis
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