Marker chromosome

Identification of the origin of marker chromosomes by two-color fluorescence in situ hybridization and polymerase chain reaction in azoospermic patients

C. L. Wei, Cheng, J. L., Yang, W. C., Li, L. Y., Cheng, H. C., and Fu, J. J., “Identification of the origin of marker chromosomes by two-color fluorescence in situ hybridization and polymerase chain reaction in azoospermic patients”, vol. 14, pp. 14488-14495, 2015.

Y chromosomal microdeletions at the azoospermia factor locus and chromosome abnormalities have been implicated as the major causes of idiopathic male infertility. A marker chromosome is a structurally abnormal chromosome in which no part can be identified by cytogenetics. In this study, to identify the origin of the marker chromosomes and to perform a genetic diagnosis of patients with azoospermia, two-color fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR) techniques were carried out.

A small supernumerary marker chromosome, derived from chromosome 22, possibly associated with repeated spontaneous abortions

M. Balkan, İsi, H., İsi, H., Gedik, A., Erdemoğlu, M., and Budak, T., “A small supernumerary marker chromosome, derived from chromosome 22, possibly associated with repeated spontaneous abortions”, vol. 9. pp. 1683-1689, 2010.

We report a phenotypically normal couple with repeated spontaneous abortions and without other clinical features. Clinical, hematological, biochemical, and endocrinological aspects of the couple did not reveal any abnormalities. The karyotype of the wife was normal (46,XX), while the husband was found to have an abnormal karyotype, 47,XY,+der(22)mat. The marker chromosome was familial and non-satellite.

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