Balkan Journal of Medical Genetics

RING AUTOSOMES: SOME UNEXPECTED FINDINGS
Caba L1,*, Rusu C1,2, Plăiaşu V3, Gug G4,5, Grămescu M1, Bujoran C2, Ochiană D3, Voloşciuc M2, Popescu R1, Braha E1,2, Pânzaru M1,2, Butnariu L1,2, Sireteanu A1, Covic M1, Gorduza EV1
*Corresponding Author: Dr. Lavinia Caba, “Grigore T. Popa” University of Medicine and Pharmacy Iasi, Department of Medical Genetics, 16 Universitatii str., Iasi, 700115, Romania; Tel.: +40724962671; Email: lavinia_zanet@yahoo.com
page: 35

MATERIALS AND METHODS

We collected the cases from three different laboratories in Romania, namely the Cytogenetic Laboratory of “Grigore T. Popa” University of Medicine and Pharmacy, Iasi, the Cytogenetic Laboratory of “Prof. Dr. Alfred Rusescu” National Institute for Mother and Child Care, Bucharest, and a private Cytogenetic Laboratory from Timisoara (Table 1). Our study was based on conventional banding cytogenetic and fluorescence in situ hybridization (FISH) analyses. In all cases, the chromosomal analysis was performed on a short time T lymphocyte culture stimulated by phytohemagglutinin. The chromosomes were G-banded using trypsin and Giemsa solution according to standard techniques. Conventional banding cytogenetic analysis was performed both for the proband and his/ her parents in all cases. The FISH protocol was only applied for the cases with ring chromosome 18. In these cases, FISH was performed using chromosome 18-specific direct-labeled probes: telomeric probes for chromosome 18 (Aquarius®; Cytocell Technologies Ltd., Cambridge, Cambridgeshire, UK) and Aquarius® Whole Chromosome Painting Probes (Cytocell Technologies Ltd.). The results of conventional banding cytogenetic analysis and FISH were elaborated in accordance with the guidelines of the International System of Human Cytogenetic Nomenclature (2009) (ISCN) [22].

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