Down syndrome — Flashcards

10 flashcards

_____ is a congenital heart disease characterized by downward displacement of tricuspid leaflets into the right ventricle

Is omphalocele associated with chromosomal abnormalities?_____

Down syndrome patients often develop Alzheimer disease by age _____

What chromosomal abnormality is commonly associated with endocardial cushion defects? _____

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

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?

Down syndrome US Medical PG Flashcards - Medical Study Cards

Master Down 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.

Down syndrome Flashcard Deck - 10 Cards

Flashcard 1: _____ is a congenital heart disease characterized by downward displacement of tricuspid leaflets into the right ventricle

Answer: Ebstein anomaly

Flashcard 2: Is omphalocele associated with chromosomal abnormalities?_____

Answer: Yes

Flashcard 3: Down syndrome patients often develop Alzheimer disease by age _____

Answer: 40

Flashcard 4: What chromosomal abnormality is commonly associated with endocardial cushion defects? _____

Answer: Trisomy 21 (Down syndrome)

Flashcard 5: What is the second most common cause of genetic intellectual disability? _____

Answer: Fragile X syndrome (#1 is Down syndrome)

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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Down syndrome Flashcards for USMLE

Study 10 flashcards on Down 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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Frequently Asked Questions

Are Down 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 Down 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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