Identification and characterisation of a small marker chromosome using non-isotopic in situ hybridisation with X and Y specific probes.
نویسندگان
چکیده
A 13 year old male with mild mental retardation, obesity, and poor secondary sexual differentiation was found to have a 46,X,+,mar karyotype. In situ hybridisation with X and Y specific probes proved the marker to be composed of Y centromeric and short arm material.
منابع مشابه
A non-isotopic in situ hybridisation study of the chromosomal origin of 15 supernumerary marker chromosomes in man.
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 chromos...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 26 3 شماره
صفحات -
تاریخ انتشار 1989