Abstract
Detection of small supernumerary marker chromosomes in karyotype analysis represents a diagnostic challenge. While such markers are usually detected during cytogenetic studies of constitutional chromosome abnormalities, they have also been found in specimens submitted from patients with acquired malignancies. We report here the detection of a marker chromosome in a bone marrow specimen from a patient who received a bone marrow transplantation. We discuss the importance of proper characterization and interpretation of marker chromosomes in clinical practice.
Highlights
Detection of small supernumerary marker chromosomes in karyotype analysis represents a diagnostic challenge
Small supernumerary marker chromosomes frequently represent a challenge in cytogenetic diagnosis
“Small supernumerary marker chromosomes: a guide for human geneticists and clinicians,” Dr Thomas Liehr [2] provided extensive review and discussion on the topic, and categorized patients with sSMC into four groups: 1) prenatally studied ones, 2) postnatally examined adults with fertility problems, 3) children and adults with unclear mental retardation, developmental delay, and/or dysmorphism, and 4) patients in which sSMC can be a secondary finding when cytogenetic analysis is done for other reasons
Summary
Detection of small supernumerary marker chromosomes in karyotype analysis represents a diagnostic challenge. Letter to Editor We read with interest of an article recently published in Molecular Cytogenetics by Wang et al [1] entitled “Copy number changes and methylation patterns in an isodicentric and a ring chromosome of 15q11-13: report of two cases and review of literature.” We would like to extend the discussion of marker chromosomes and report our finding of a small supernumerary marker chromosome in a patient who received a bone marrow transplantation. Small supernumerary marker chromosomes frequently represent a challenge in cytogenetic diagnosis.
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