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48, XXXX: Quiz

  

Question 1: Tetrasomy X is usually suspected based on symptoms present in the individual and is confirmed via ________, which reveals the extra X chromosomes.
ChromatinKaryotypePolyploidyChromosomal translocation

Question 2: Several cardiac defects have also been reported, including ventricular/atrial septal defects, atresia, hypoplastic right heart syndrome, ________, and conotruncal or valvular cardiac defects.
ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalitiesCerebral arteriovenous malformationArteriovenous malformationPatent ductus arteriosus

Question 3: About 50% of patients undergo ________ normally, whereas the other 50% experiences no puberty, partial puberty without secondary sexual characteristics, or complete puberty with menstrual irregularities and/or early menopause (possibly as early as the teens).
Prenatal developmentPubertyPregnancySexual differentiation

Question 4: XXXX syndrome (also called tetrasomy X, quadruple X, or 48, XXXX) is a rare chromosomal disorder caused by the presence of four ________ instead of two X chromosomes, which are normally found in females.
Chromosome 7 (human)Human genomeX chromosomeY chromosome

Question 5: Tetrasomy X was first described in ________, and since then approximately 100 cases have been reported worldwide.
1961196219601964

Question 6: Tetrasomy X is a chromosomal aneuploidy, meaning it arises from a defect in ________.
MitosisMeiosisCell cycleChromosome

Question 7: Many also show joint and muscle tone abnormalities, including ________ and joint looseness in the hips.
HypotoniaPneumothoraxPreterm birthHypertonia
















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