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Uniparental disomy: Quiz


Question 1: The most well-known conditions include Prader-Willi syndrome and ________.
Fragile X syndromeDiGeorge syndromePrader–Willi syndromeAngelman syndrome

Question 2: When the child receives, two (identical) replica copies of a single homolog of a ________, this is called an isodisomic UPD.
KaryotypeChromosomeChromosomal translocationAutosome

Question 3: However, if the UPD causing event happens during ________ II, the genotype may include identical copies of the uniparental chromosome (isodisomy), leading to the manifestation of rare recessive disorders.
MitosisCell cycleMeiosisCell division

Question 4: Other conditions, such as ________, are associated with abnormalities of imprinted genes on the short arm of chromosome 11.
Beckwith-Wiedemann syndromeMöbius syndromeICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalitiesSilver–Russell syndrome

Question 5: Chromosome 14 is also known to cause particular symptoms such as skeletal abnormalities, ________ and joint contractures among others.
Mental disorderAlzheimer's diseaseMental retardationSchizophrenia

Question 6: UPD can occur as a random event during the formation of egg or ________ cells or may happen in early fetal development.
Sexual reproductionSpermatozoonSpermFertilisation

Question 7: Uniparental disomy (UPD) occurs when a person receives two copies of a ________, or part of a chromosome, from one parent and no copies from the other parent.
KaryotypeChromosomeAutosomeChromosomal translocation

Question 8: Heterodisomy (Heterozygous) indicates a ________ I error.
Cell cycleMitosisChromosomeMeiosis

Question 9: The effect is similar to triploidy, with either a ________ with no embryo if only paternal genes are present, or an embryo with no placenta if only maternal genes are present.
MiscarriageHydatidiform moleEctopic pregnancyBreech birth

Question 10: This includes ________ 2, 5-11, 13-16, 21 and 22.
AutosomeChromosomal translocationKaryotypeChromosome

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