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Molecular studies of an X;Y translocation chromosome in a woman with deletion of the pseudoautosomal region but normal height

A translocation chromosome in a woman with the karyotype 46,X,der(X)t(X;Y)(p22.3; q11.2) was investigated by FISH and STS analysis with molecular probes derived from the sex chromosomes. Due to the partial deletion of the short arm pseudoautosomal region (PARI) from DXYS14 to DXYS147 in the transloc...

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Main Authors: Spranger, Stephanie (Author) , Kirsch, S. (Author) , Mertz, A. (Author) , Schiebel, Katrin (Author) , Tariverdian, Gholamali (Author) , Rappold, Gudrun (Author)
Format: Article (Journal)
Language:English
Published: 1997
In: Clinical genetics
Year: 1997, Volume: 51, Issue: 5, Pages: 346-350
ISSN:1399-0004
DOI:https://doi.org/10.1111/j.1399-0004.1997.tb02486.x
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/https://doi.org/10.1111/j.1399-0004.1997.tb02486.x
Verlag, lizenzpflichtig, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1111/j.1399-0004.1997.tb02486.x
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Author Notes:S. Spranger, S. Kirsch, A. Mertz, K. Schiebel, G. Tariverdian and G.A. Rappold

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