_____ is a 22q11 deletion syndrome that presents with thymic aplasia, parathyroid aplasia and cardiac defects.
#2
The features of a chromosome 22q11 microdeletion may be remembered with the mnemonic "CATCH 22": C: _____A: Abnormal faciesT: Thymic aplasia C: Conotruncal abnormalities (truncus arteriosus, tetralogy of Fallot, interrupted aortic arch) H: Hypocalcemia (lack of parathyroids)
#3
Which genomic test would be helpful in evaluating suspected DiGeorge Syndrome?_____
#4
What is the mode of diagnosis of Duchenne muscular dystrophy?_____
#5
Monosomy 1p36 is associated with _____rocephaly.
#6
In a small fraction (normal cytogenetic studies targeted evaluation of DiGeorge locus genes, such as _____, may be indicated
#7
Maternal PKU may present with _____-cephaly, intellectual disability, growth retardation, and congenital heart defects in the infant
#8
What is the most common cause of genetic mental retardation?
#9
Characteristic clinical findings in Phenylketonuria: No answer _____
#10
The abnormality of _____ syndrome is arterio-hepatic dysplasia
Genetic Testing in Pediatrics US Medical PG Flashcards - Medical Study Cards
Master Genetic Testing in Pediatrics 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.
Genetic Testing in Pediatrics Flashcard Deck - 10 Cards
Flashcard 1: _____ is a 22q11 deletion syndrome that presents with thymic aplasia, parathyroid aplasia and cardiac defects.
Answer: DiGeorge Syndrome
Flashcard 2: The features of a chromosome 22q11 microdeletion may be remembered with the mnemonic "CATCH 22": C: _____A: Abnormal faciesT: Thymic aplasia C: Conotruncal abnormalities (truncus arteriosus, tetralogy of Fallot, interrupted aortic arch) H: Hypocalcemia (lack of parathyroids)
Answer: Cleft palate
Flashcard 3: Which genomic test would be helpful in evaluating suspected DiGeorge Syndrome?_____
Answer: FISH
Flashcard 4: What is the mode of diagnosis of Duchenne muscular dystrophy?_____
Answer: PCR
Flashcard 5: Monosomy 1p36 is associated with _____rocephaly.
Answer: mic
Flashcard 6: In a small fraction (normal cytogenetic studies targeted evaluation of DiGeorge locus genes, such as _____, may be indicated
Answer: TBX1
Flashcard 7: Maternal PKU may present with _____-cephaly, intellectual disability, growth retardation, and congenital heart defects in the infant
Answer: micro
Flashcard 8: What is the most common cause of genetic mental retardation?
Answer: Down syndrome (trisomy 21)
Flashcard 9: Characteristic clinical findings in Phenylketonuria: No answer _____
Answer: :)
Flashcard 10: The abnormality of _____ syndrome is arterio-hepatic dysplasia
Answer: Alagille
Keywords: Genetic Testing in Pediatrics flashcards, medical flashcards, NEET PG preparation, USMLE Step 1 flashcards, Anki alternative, spaced repetition medical, OnCourse flashcards
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