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The jumping SHOX gene-crossover in the pseudoautosomal region resulting in unusual inheritance of Leri-Weill dyschondrosteosis

During meiosis I, the recombination frequency in the pseudoautosomal region on Xp and Yp (PAR1) in males is very high. As a result, mutated genes located within the PAR1 region can be transferred from the Y-chromosome to the X-chromosome and vice versa.Here we describe three families with SHOX abnor...

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Hauptverfasser: Kant, Saartje Gijsbertje (VerfasserIn) , van der Kamp, Hetty J. (VerfasserIn) , Kriek, Marjolein (VerfasserIn) , Bakker, Egbert (VerfasserIn) , Bakker, Boudewijn (VerfasserIn) , Hoffer, Mariette J. V. (VerfasserIn) , van Bunderen, Patrick (VerfasserIn) , Losekoot, Monique (VerfasserIn) , Maas, Saskia M. (VerfasserIn) , Wit, Jan M. (VerfasserIn) , Rappold, Gudrun (VerfasserIn) , Breuning, Martijn H. (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 2011
In: The journal of clinical endocrinology & metabolism
Year: 2011, Jahrgang: 96, Heft: 2, Pages: E356-E359
ISSN:1945-7197
DOI:10.1210/jc.2010-1505
Online-Zugang:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1210/jc.2010-1505
Volltext
Verfasserangaben:Sarina G. Kant, Hetty J. van der Kamp, Marjolein Kriek, Egbert Bakker, Boudewijn Bakker, Mariette J.V. Hoffer, Patrick van Bunderen, Monique Losekoot, Saskia M. Maas, Jan M. Wit, Gudrun Rappold, and Martijn H. Breuning
Beschreibung
Zusammenfassung:During meiosis I, the recombination frequency in the pseudoautosomal region on Xp and Yp (PAR1) in males is very high. As a result, mutated genes located within the PAR1 region can be transferred from the Y-chromosome to the X-chromosome and vice versa.Here we describe three families with SHOX abnormalities resulting in Leri-Weill dyschondrosteosis or Langer mesomelic dysplasia.In about half of the segregations investigated, a transfer of the SHOX abnormality to the alternate sex chromosome was demonstrated.Patients with an abnormality of the SHOX gene should receive genetic counseling as to the likelihood that they may transmit the mutation or deletion to a son as well as to a daughter.
Beschreibung:First published online November 10, 2010
Gesehen am 11.07.2022
Beschreibung:Online Resource
ISSN:1945-7197
DOI:10.1210/jc.2010-1505

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