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)
#2
X-linked adrenal hypoplasia is due to mutation of _____ gene on Xp21
#3
The 5A's of down syndrome are:A_____Atresia (Duodenal)Atrioventricular septal defectAlzheimers (early onset)AML/ALL
#4
What is the mode of inheritence of Alagille syndrome?_____
#5
Monosomy 1p36 is associated with _____rocephaly.
#6
Pearson syndrome is a mitochondrial inheritence disorder characterised by _____ insufficiency, pancytopenia and lactic acidosis
#7
In a small fraction (normal cytogenetic studies targeted evaluation of DiGeorge locus genes, such as _____, may be indicated
#8
Maternal PKU may present with _____-cephaly, intellectual disability, growth retardation, and congenital heart defects in the infant
#9
What is the most common cause of genetic mental retardation?
#10
Characteristic clinical findings in Phenylketonuria: No answer _____
Genetic Counseling US Medical PG Flashcards - Medical Study Cards
Master Genetic Counseling 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 Counseling Flashcard Deck - 10 Cards
Flashcard 1: 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 2: X-linked adrenal hypoplasia is due to mutation of _____ gene on Xp21
Answer: DAX1
Flashcard 3: The 5A's of down syndrome are:A_____Atresia (Duodenal)Atrioventricular septal defectAlzheimers (early onset)AML/ALL
Answer: dvanced maternal age
Flashcard 4: What is the mode of inheritence of Alagille syndrome?_____
Answer: Autosomal dominant
Flashcard 5: Monosomy 1p36 is associated with _____rocephaly.
Answer: mic
Flashcard 6: Pearson syndrome is a mitochondrial inheritence disorder characterised by _____ insufficiency, pancytopenia and lactic acidosis
Answer: pancreatic
Flashcard 7: In a small fraction (normal cytogenetic studies targeted evaluation of DiGeorge locus genes, such as _____, may be indicated
Answer: TBX1
Flashcard 8: Maternal PKU may present with _____-cephaly, intellectual disability, growth retardation, and congenital heart defects in the infant
Answer: micro
Flashcard 9: What is the most common cause of genetic mental retardation?
Answer: Down syndrome (trisomy 21)
Flashcard 10: Characteristic clinical findings in Phenylketonuria: No answer _____
Answer: :)
Keywords: Genetic Counseling flashcards, medical flashcards, NEET PG preparation, USMLE Step 1 flashcards, Anki alternative, spaced repetition medical, OnCourse flashcards
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