A non-isotopic in situ hybridisation study of the chromosomal origin of 15 supernumerary marker chromosomes in man.
نویسندگان
چکیده
Fifteen patients presenting with mosaic or non-mosaic karyotypes containing a distamycin-DAPI negative de novo or familial supernumerary marker chromosome were studied with non-isotopic in situ hybridisation using a library of alphoid centromere specific and satellite II/III probes. The in situ hybridisation studies showed that seven markers were derived from satellited autosomes (three chromosome 13/21, two chromosome 14, two chromosome 22), six from non-satellited autosomes (two chromosome 4, one chromosome 12, one chromosome 16, two chromosome 19), and one from the Y chromosome. One non-mosaic marker was negative for all the alphoid and satellite II/III probes used.
منابع مشابه
The First Case of a Small Supernumerary Marker Chromosome 18 in a Klinefelter Fetus: A Case Report
Small supernumerary marker chromosomes (sSMCs), or markers, are abnormal chromosomal fragments that can be hereditary or de novo. Despite the importance of sSMCs diagnosis, de novo sSMCs are rarely detected during the prenatal diagnosis process. Usually, prenatally diagnosed de novo sSMCs cannot be correlated with a particular phenotype without knowing their chromosomal origin and content; ther...
متن کاملApplication of conventional chromosomal aberration and fluorescence in situ hybridisation (FISH) translocation in the assessment of occupationally derived irradiation
Background: Most of our current understanding of the biological effects of exposure to ionising radiation is based on conventional cytogenetic techniques, which enable us to determine the relationship between chromosomal aberration and dose received by radiation workers. However, conventional techniques have numerous limitations and chromosomal aberrations can be easily missed. Since FISH plays...
متن کاملMosaic supernumerary ring chromosome 19 identified by comparative genomic hybridisation.
We report the use of comparative genomic hybridisation (CGH) to define the origin of a supernumerary ring chromosome which conventional cytogenetic banding and fluorescence in situ hybridisation (FISH) methods had failed to identify. Targeted FISH using whole chromosome 19 library arm and site specific probes then confirmed the CGH results. This study shows the feasibility of using CGH for the ...
متن کاملDetection of abl/bcr Fusion Gene in Patients Affected by Chronic Myeloid Leukaemia by Dual-Colour Interphase Fluorescence in situ Hybridisation
Conventional cytogenetic is the standard technique for detection of Philadelphia (Ph) chromosome in chronic myeloid leukemia (CML). Evaluation of abelson murine leukemia/breakpoint cluster region (abl/bcr) fusion using dual-colour fluorescence in situ hybridization (D-FISH) is an alternative approach allowing rapid and reliable detection of the disease. We employed the technique of interphase D...
متن کاملNew immortalized cell lines of patients with small supernumerary marker chromosome: towards the establishment of a cell bank.
Sixteen newly established cell lines with small supernumerary marker chromosomes (sSMC) derived from chromosomes 1, 2, 4, 6, 7, 8, 14, 15, 16, 18, 19, 21, and 22 are reported. Two sSMC are neocentric and derived from 15q24.1-qter and 2q35-q36, respectively. Two further cases each present with two sSMC of different chromosomal origin. sSMC were characterized by multicolor fluorescence in situ hy...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Journal of medical genetics
دوره 29 10 شماره
صفحات -
تاریخ انتشار 1992