Navigation überspringen
Universitätsbibliothek Heidelberg
Status: Bibliographieeintrag

Verfügbarkeit
Standort: ---
Exemplare: ---
heiBIB
 Online-Ressource
Verfasst von:Evers, Christina [VerfasserIn]   i
 Heidemann, Ph [VerfasserIn]   i
 Dunstheimer, D [VerfasserIn]   i
 Schulze, E [VerfasserIn]   i
 Haag, C [VerfasserIn]   i
 Janssen, Johannes W. G. [VerfasserIn]   i
 Fischer, C [VerfasserIn]   i
 Jauch, Anna [VerfasserIn]   i
 Moog, Ute [VerfasserIn]   i
Titel:Pseudoautosomal inheritance of Léri-Weill syndrome
Titelzusatz:what does it mean?
Verf.angabe:C. Evers, P.H. Heidemann, D. Dunstheimer, E. Schulze, C. Haag, J.W.G. Janssen, C. Fischer, A. Jauch and U. Moog
E-Jahr:2011
Jahr:07 April 2011
Umfang:6 S.
Fussnoten:Gesehen am 02.05.2022
Titel Quelle:Enthalten in: Clinical genetics
Ort Quelle:Oxford : Wiley-Blackwell, 1970
Jahr Quelle:2011
Band/Heft Quelle:79(2011), 5, Seite 489-494
ISSN Quelle:1399-0004
Abstract:The short stature homeobox (SHOX) gene is located in the pseudoautosomal region 1 of both sex chromosomes. Haploinsufficiency of SHOX leads to different phenotypes ranging from isolated short stature to Léri-Weill syndrome characterized by short stature, mesomelia and Madelung deformity. We describe a family with a SHOX deletion originally located on the Y chromosome and transmitted from father to daughter by crossover during meiosis. The male index patient presented with short stature, mesomelia and mild Madelung deformity. His father had a normal height but slightly disproportionate short legs. The sister of the index patient presented with marked Madelung deformity and normal height. A deletion of the SHOX gene was identified in the male index patient, his father and his sister. Metaphase fluorescence in situ hybridization (FISH) analyses showed a deletion of the SHOX gene on the Y chromosomes of the index patient and his father, and on the X chromosome of his sister, indicating that a meiotic crossover of the SHOX gene region between the X and Y chromosomes had occurred. The pseudoautosomal region 1 is a known recombination ‘hot spot' in male meiosis. Published genetic maps indicate high recombination frequency of ∼40% for SHOX in male meiosis leading to pseudoautosomal inheritance.
DOI:doi:10.1111/j.1399-0004.2010.01488.x
URL:Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.

Volltext ; Verlag: https://doi.org/10.1111/j.1399-0004.2010.01488.x
 Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1111/j.1399-0004.2010.01488.x
 DOI: https://doi.org/10.1111/j.1399-0004.2010.01488.x
Datenträger:Online-Ressource
Sprache:eng
Sach-SW:LWD
 LWS
 pseudoautosomal inheritance
 SHOX gene
K10plus-PPN:1800629265
Verknüpfungen:→ Zeitschrift

Permanenter Link auf diesen Titel (bookmarkfähig):  https://katalog.ub.uni-heidelberg.de/titel/68913159   QR-Code
zum Seitenanfang