First small supernumerary ring chromosome carrying 10q euchromatin in a patient with mild phenotype characterized by molecular cytogenetic techniques and review of the literature

Vol. 108, No. 4, 2005

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Original Article

First small supernumerary ring chromosome carrying 10q euchromatin in a patient with mild phenotype characterized by molecular cytogenetic techniques and review of the literature
M. Trimborn^a, A. Grueters^b, H. Neitzel^a, H. Tönnies^a

^aInstitute of Human Genetics, Charité, Campus Virchow-Klinikum, Humboldt-University, Berlin;
^bDepartment of Pediatric Endocrinology, Charité, Campus Virchow-Klinikum, Humboldt-University, Berlin (Germany)

Address of Corresponding Author

Cytogenet Genome Res 2005;108:278-282 (DOI: 10.1159/000081524)

Abstract.

We report the identification and characterization of the first supernumerary ring chromosome 10 containing a considerable proportion of 10q euchromatin by microdissection and reverse painting in a female patient presenting with short stature. Fluorescence in situ hybridization studies showed that the marker chromosome originates from chromosome 10 and includes the euchromatic bands p11.2 and q11.2. The supernumerary marker chromosome 10 was found in 14% of the peripheral blood lymphocytes analyzed. This constitutional mosaic could be confirmed in oral mucosa cells as a second cell system (16%) by interphase FISH using an alphoid centromeric probe for chromosome 10. Parental karyotypes were normal, uniparental disomy for the normal chromosomes 10 could be excluded by microsatellite analysis. The karyotype of the patient detected in peripheral blood cells can be described as mos 47,XX,+mar.rev ish r(10)(p11.2q11.2)(wcp10+,cep10+)/46,XX.

Author Contacts

Request reprints from: Holger Tönnies, Institute of Human Genetics
Charité, University Medicine Berlin, Humboldt University
Augustenburger Platz 1, DE-13353 Berlin (Germany)
telephone: +49-30-450566807; fax +49-30-450566933
e-mail: Holger.Toennies@charite.de

Article Information

Manuscript received 30 June 2004;
accepted in revised form for publication by M. Schmid 29 July 2004.
Number of Print Pages : 5
Number of Figures : 1, Number of Tables : 2, Number of References : 21

Medline Abstract (ID 15627745)

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