Abstract
Determination of Centromere Number of Chromosomes Involved in Robertsonian Translocation by using Fluorescence in Situ Hybridization (FISH)
Highlights
Robertsonian translocations are one of the most common structural chromosomal aberrations observed in humans and occur in approximately 1 in every 1000 newborns (1)
Alpha-satellite DNA sequence is a major class of repetitive DNA found at the centromeric region of each human chromosome (6)
Molecular studies have shown that the pericentromeric and short-arm regions of these five pairs of acrocentric chromosomes have extensive sequence homology, some sequences are not common to all of the acrocentrics
Summary
Robertsonian translocations are one of the most common structural chromosomal aberrations observed in humans and occur in approximately 1 in every 1000 newborns (1). This translocation can be either de novo or be transmitted by one of carrier parent. The majority of Robertsonian translocations involve two nonhomologous acrocentric chromosomes. The acrocentric chromosomes in man have been intensively investigated, both because of their frequent involvement in chromosomal aberrations and aneuploidy and because of their unique structural properties (3). Carriers of Robertsonian translocations are phenotypically normal but are at increased risk for infertility, spontaneous abortions or chromosomally unbalanced offspring. Malsegregation of Robertsonian translocation, results in trisomy or monosomy of complete chromosomes (4)
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