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Journal of Applied Genetics 48(2), 2007, pp. 157-166

Chromosome abnormalities without phenotypic consequences

Malgorzata Kowalczyk, Malgorzata Srebniak, Agnieszka Tomaszewska

Abstract: Some changes in chromosome morphology, detected during cytogenetic analysis, are not associated with clinical defects. Therefore a proper discrimination of harmless variants from true abnormalities, especially during prenatal diagnosis, is crucial to allow precise counseling. In this review we described chromosome variants and examples of chromosome anomalies that are considered to be unrelated to phenotypic consequences. The correlation between the presence of marker chromosomes and a risk of clinical signs is also discussed. Structural rearrangements of heterochromatic material, satellite polymorphism, or fragile sites, are well-known examples of common chromosome variation. However, the absence of clinical effects has also been reported in some cases of chromosome abnormalities concerning euchromatin. Such euchromatic anomalies were divided into 2 categories: unbalanced chromosome abnormalities (UBCAs), such as deletions or duplications, and euchromatic variants (EVs). Recently so-called molecular karyotyping, especially whole-genome screening by the use of high-resolution array-CGH technique, contributed to revealing a high number of previously unknown small genomic variations, which seem to be asymptomatic, as they are present in phenotypically normal individuals.

Key words: cytogenetic diagnosis, euchromatic variants (EVs), heteromorphism, molecular karyotyping, supernumerary marker chromosomes (SMCs), unbalanced euchromatic abnormalities (UBCAs).

Correspondence: M. Srebniak, Clinical Genetics, Erasmus Medical Centre, Rotterdam, Dr. Molewaterplein 50, 3015 GE Rotterdam; e-mail: or

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