Fragile X syndrome — Flashcards

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Fragile X syndrome — Flashcards

10 flashcards

Read Study Notes Questions

α-thalassemia due to a four gene deletion causes _____ (lethal in utero)

What newborn screening blood test is used to screen for cystic fibrosis? _____

_____ syndrome is a rare genetic disorder characterized by a failure to complete puberty

What is the most common cause of genetic intellectual disability? _____

Rett syndrome presents with _____, including loss of development and verbal abilities

Enzyme deficiency and inheritance of Hunter syndrome?

What is the enzyme deficiency in Hurler's syndrome?

What manifestation of 22q11 deletion syndrome define velocardiofacial syndrome?

What is the genetic defect in Williams syndrome?

#10

Clinical features and genetic defect in Prader-Willi syndrome?

Fragile X syndrome US Medical PG Flashcards - Medical Study Cards

Master Fragile X syndrome with OnCourse flashcards. These spaced repetition flashcards are designed for medical students preparing for NEET PG, USMLE Step 1, USMLE Step 2, MBBS exams, and other medical licensing examinations.

Fragile X syndrome Flashcard Deck - 10 Cards

Flashcard 1: α-thalassemia due to a four gene deletion causes _____ (lethal in utero)

Answer: hydrops fetalis

Flashcard 2: What newborn screening blood test is used to screen for cystic fibrosis? _____

Answer: Immunoreactive trypsinogen

Flashcard 3: _____ syndrome is a rare genetic disorder characterized by a failure to complete puberty

Answer: Kallmann

Flashcard 4: What is the most common cause of genetic intellectual disability? _____

Answer: Down syndrome

Flashcard 5: Rett syndrome presents with _____, including loss of development and verbal abilities

Answer: regression

Flashcard 6: Enzyme deficiency and inheritance of Hunter syndrome?

Answer: Enzyme deficiency: Iduronate sulfatase Inheritance: X-linked recessive (XR)

Extra: - Accumulation of heparan sulfate and dermatan sulfate. - Clinical features: Developmental delay, gargoylism, airway obstruction, hepatosplenomegaly. - Distinctive features: Aggressive behavior, NO corneal clouding (unlike Hurler syndrome).

Flashcard 7: What is the enzyme deficiency in Hurler's syndrome?

Answer: Deficiency of α-L-iduronidase

Extra: • Inheritance: Autosomal Recessive (AR) • Accumulation of: Heparan sulfate and Dermatan sulfate • Clinical Features: Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly.

Flashcard 8: What manifestation of 22q11 deletion syndrome define velocardiofacial syndrome?

Answer: cardiac, palate, facial defects

Flashcard 9: What is the genetic defect in Williams syndrome?

Answer: 7q11.23 microdeletion (including elastin gene)

Extra: Characteristics of Williams Syndrome: - Elfin facies - Intellectual disability (mild retardation) - Hyper-verbal / Cocktail party personality (hyper-friendly) - Cardiovascular problems: Supravalvular aortic stenosis (SVAS) - Idiopathic hypercalcemia in infancy

Flashcard 10: Clinical features and genetic defect in Prader-Willi syndrome?

Answer: Mental retardation, hyperphagia, obesity, hypogonadism, hypotonia

Extra: Paternal deletion or mutation on chromosome 15 (15q11-q13). Since the maternal copy is normally silenced (imprinted), the loss of the paternal allele leads to disease.

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Fragile X syndrome Flashcards for USMLE

Study 10 flashcards on Fragile X syndrome for USMLE Pediatrics. These active recall cards cover the key concepts, clinical associations, and high-yield facts from this chapter of Genetic disorders. Each card is designed to test your understanding rather than just recognition, building stronger and more durable memories for exam day.

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Are Fragile X syndrome flashcards free?

Yes, all flashcards on this page are completely free. You can study all 10 cards at no cost. For spaced repetition scheduling, download the Oncourse app.

How many flashcards does this chapter have?

There are 10 flashcards for Fragile X syndrome, covering the key concepts, clinical correlations, and high-yield facts from this chapter of Genetic disorders.

How should I use these flashcards for USMLE?

Read through each prompt and try to answer before revealing the back of the card. This active recall approach builds stronger memories than passive reading. Combine flashcards with the study notes and MCQ practice for the best results.

Are there more flashcards for Genetic disorders?

Yes. This page covers one chapter of Genetic disorders. Visit the topic page to see all chapters and their flashcards under Pediatrics.

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