Which metabolic storage disorder is characterised by presence of collodion baby?_____
#2
X-linked adrenal hypoplasia is due to mutation of _____ gene on Xp21
#3
Werdnig-Hoffmann (SMA Type 1) is caused by an _____ inherited mutation in the SMN1 gene on chromosome 5q, which factilitates the assembly of snRNPs
#4
Alagille syndrome is associated with mutations in _____ gene in 90% of patients
#5
Monosomy 1p36 is associated with _____rocephaly.
#6
Pearson syndrome is a mitochondrial inheritence disorder characterised by _____ insufficiency, pancytopenia and lactic acidosis
#7
A(n) _____ immunoreactive trypsinogen may be indicative of cystic fibrosis
#8
In a small fraction (normal cytogenetic studies targeted evaluation of DiGeorge locus genes, such as _____, may be indicated
#9
What is the most common cause of genetic mental retardation?
#10
Characteristic clinical findings in Phenylketonuria: No answer _____
Single Gene Disorders US Medical PG Flashcards - Medical Study Cards
Master Single Gene Disorders 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.
Single Gene Disorders Flashcard Deck - 10 Cards
Flashcard 1: Which metabolic storage disorder is characterised by presence of collodion baby?_____
Answer: Gaucher syndrome type 2
Flashcard 2: X-linked adrenal hypoplasia is due to mutation of _____ gene on Xp21
Answer: DAX1
Flashcard 3: Werdnig-Hoffmann (SMA Type 1) is caused by an _____ inherited mutation in the SMN1 gene on chromosome 5q, which factilitates the assembly of snRNPs
Answer: autosomal recessive
Flashcard 4: Alagille syndrome is associated with mutations in _____ gene in 90% of patients
Answer: JAG1
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: A(n) _____ immunoreactive trypsinogen may be indicative of cystic fibrosis
Answer: increased
Flashcard 8: In a small fraction (normal cytogenetic studies targeted evaluation of DiGeorge locus genes, such as _____, may be indicated
Answer: TBX1
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: Single Gene Disorders flashcards, medical flashcards, NEET PG preparation, USMLE Step 1 flashcards, Anki alternative, spaced repetition medical, OnCourse flashcards
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