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Molecular cytogenetic characterization of three familial cases of satellited Y chromosomes

โœ Scribed by Tracy Wilkinson; John Anthony Crolla


Publisher
Springer
Year
1993
Tongue
English
Weight
551 KB
Volume
91
Category
Article
ISSN
0340-6717

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โœฆ Synopsis


Three families in which a satellited Y chromosome (Yqs) was segregating without apparent phenotypic effect were re-investigated with non-isotopic in situ hybridization methods. Active nucleolus organizer regions were seen in the distal long arm region of all Yqs chromosomes studied and in situ hybridization with the probe D15Z1 showed that, in all three families, the Yqs was the result of a 15p;Yq translocation. In one case, an additional focus of D15Z1 hybridization was seen on 21p.


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We report the results of detailed molecularcytogenetic studies of two isodicentric Y [idic(Y)] chromosomes identiยฎed in patients with complex mosaic karyotypes. We used ยฏuorescence in situ hybridization (FISH) and polymerase chain reaction (PCR) to determine the structure and genetic content of the