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Question 1
A newborn presents with hypotonia, almond-shaped eyes, small hands and feet, and feeding difficulties. Methylation analysis of chromosome 15q11-q13 shows a maternal-only pattern. What is the most likely diagnosis?
Correct Answer:
Prader-Willi syndrome
Question 2
A 6-month-old infant is found to have trisomy 21 on karyotype. The parents are both 28 years old. Parental karyotypes reveal the mother carries a Robertsonian translocation t(14;21). What is the recurrence risk for trisomy 21 in future pregnancies?
Correct Answer:
10-15%
Question 3
Which microdeletion syndrome is characterized by conotruncal cardiac defects, palatal abnormalities, hypocalcemia, T-cell immunodeficiency, and a deletion at 22q11.2?
Correct Answer:
DiGeorge syndrome / 22q11.2 deletion syndrome
Question 4
A 3-year-old boy presents with intellectual disability, a long face, prominent ears, and macroorchidism. His mother is phenotypically normal but has premature ovarian insufficiency. Molecular testing in the mother shows 90 CGG repeats in the FMR1 gene. What is the mother's genetic status?
Correct Answer:
Premutation carrier
Question 5
A child with Down syndrome phenotype has a karyotype showing 46 chromosomes with a translocation between chromosomes 21 and 21: 46,XX,rob(21;21)(q10;q10),+21. What is the recurrence risk if one parent carries this translocation?
Correct Answer:
100% — all viable offspring will have trisomy 21
Question 1
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About this Exam

Prepare with the ABMGG Clinical Genetics & Genomics Practice Questions - Clinical Genetics and Genomics (ABMGG) Exam practice quiz. This question bank includes 100 questions covering child, patient, shows, presents, and gene. Use it to review important concepts, identify knowledge gaps, and build confidence for the related exam, course, or assessment.

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ABMGG Clinical Genetics & Genomics Practice Questions - Clinical Genetics and Genomics (ABMGG) Exam

This practice set contains 100 questions from the matching question bank and focuses on child, patient, shows, presents, and gene. Work through each question carefully, review the provided solutions, and revisit topics that need more study before your next attempt.

This is an independent study resource intended for practice and review; it is not an official examination or an endorsement by any organization named in the title.

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