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Lujan-Fryns syndrome: Quiz

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Question 1: As the X chromosome is one of the sex chromosomes (the other being the ________), X-linked inheritance is determined by the gender of the parent carrying a specific gene and can often seem complex.
Chromosome 8 (human)Y chromosomeChromosome 2 (human)Human genome

Question 2: [7] The most common of these in LFS is an autism-like spectrum disorder, and LFS is considered as one of a number of genetic disorders associated with ________.
Rett syndromeAutismPervasive developmental disorderAsperger syndrome

Question 3: [13][41] A scenario such as this would also be possible with ________ inheritance, but in this particular case report, the girl was believed to be a manifesting heterozygote.
Wiskott-Aldrich syndromeX-linked recessive inheritanceFragile X syndromeLesch–Nyhan syndrome

Question 4: Mutations in the ________ gene, also found on the X chromosome, are another cause of X-linked mental retardation.
UPF2UPF1EntrezUPF3B

Question 5: Lujan-Fryns syndrome is named after ________ J.
Medical schoolMedicinePhysicianPediatrics

Question 6: purine-pyrimidine metabolism: ________
Lesch–Nyhan syndromeGlucose-6-phosphate dehydrogenase deficiencyPelizaeus-Merzbacher diseaseHunter syndrome

Question 7: MED12, or mediator of RNA polymerase II trancription, subunit 12 homolog of S. cerevisiae, is one of several subunits in the mammalian mediator complex, which regulates ________ during mRNA transcription.
TelomeraseRNA polymerase II holoenzymeGlucokinaseRNA polymerase II

Question 8: [7] Additional effects on the heart that have been reported with LFS are ventricular and ________.
Mitral regurgitationAortic valve stenosisAtrial septal defectAortic insufficiency

Question 9: [6][7][8] The disorder is inherited in an X-linked dominant manner, and is attributed to a missense mutation in the ________ gene.
Estrogen receptor alphaCalcitriol receptorCyclin-dependent kinase 8MED12

Question 10: A number of features involving the ________ have been noted in several LFS cases, the most significant being dilation of the aortic root, a section of the ascending aorta.
Circulatory systemHeartTorsoLymphatic system







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