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Journal of the Society for Gynecologic Investigation
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Original ArticlesReview Article : Molecular Analysis to Assign Parental Origin and Distinguish De Novo i(2I q) From t(2I q2I q) in Two Down Syndrome Fetuses

Jian Zhao, PhD

Avirachan T. Tharapel, PhD

Lee P. Shulman, MD

Joe Leigh Simpson, MD

Sherman Elias, MD

OBJECTIVE: We sought to determine the origin of two prenatal cases of chromosome 21 rear rangements not amenable to clarification by conventional cytogenetic methodology.

METHODS: Hypervariable repeat polymorphisms (chromosome 21) were used to determine the type of structural rearrangement and the parental origin of the rearranged chromosome. The repeats used were highly polymorphic and located very close to the centromere; thus, the likelihood of differences among the parental alleles and overall informativeness were increased.

RESULTS: The rea(21q21q) chromosomes were identified as a Robertsonian translocation in one fetus and an isochromosome in the other. The extra chromosome material was found to be maternal in origin in both cases.

CONCLUSION: The ability to clarify the origin of abnormal chromosomal rearrangements pro vides valuable information concerning possible mechanisms of aneuploidy, as well as clinical data that may have an impact in assessing a patient's risk for abnormal offspring. (J Soc Gynecol Invest 1994;1:128-30)

Key Words: Down syndrome • chromosome rearrangement • isochromosome • Robertsonian translocation • hypervariable repeat sequences.

Journal of the Society for Gynecologic Investigation, Vol. 1, No. 2, 128-130 (1994)
DOI: 10.1177/107155769400100205
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