Buchumschlag

Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri-Weill dyschondrosteosis

Twelve patients with different features of Turner syndrome, and with Xp and Yp rearrangements involving the pseudoautosomal region (PAR1) are described. In all patients, FISH analysis showed loss of one copy of the Short Stature Homeobox (SHOX)-containing gene. Ten patients had short stature and one...

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Hauptverfasser: Palka, Giandomenico (VerfasserIn) , Stuppia, Liborio (VerfasserIn) , Franchi, P. Guanciali (VerfasserIn) , Chiarelli, F. (VerfasserIn) , Fischetto, R. (VerfasserIn) , Borrelli, P. (VerfasserIn) , Giannotti, A. (VerfasserIn) , Fioretti, G. (VerfasserIn) , Rinaldi, Mm (VerfasserIn) , Mingarelli, R. (VerfasserIn) , Rappold, Gudrun (VerfasserIn) , Calabrese, G. (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 2000
In: Clinical genetics
Year: 2000, Jahrgang: 57, Heft: 6, Pages: 449-453
ISSN:1399-0004
DOI:https://doi.org/10.1034/j.1399-0004.2000.570609.x
Online-Zugang:Verlag, lizenzpflichtig, Volltext: https://doi.org/https://doi.org/10.1034/j.1399-0004.2000.570609.x
Verlag, lizenzpflichtig, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1034/j.1399-0004.2000.570609.x
Volltext
Verfasserangaben:G. Palka, L. Stuppia, P. Guanciali Franchi, F. Chiarelli, R. Fischetto, P. Borrelli, A. Giannotti, G. Fioretti, Mm Rinaldi, R. Mingarelli, Ga Rappold, G. Calabrese
Beschreibung
Zusammenfassung:Twelve patients with different features of Turner syndrome, and with Xp and Yp rearrangements involving the pseudoautosomal region (PAR1) are described. In all patients, FISH analysis showed loss of one copy of the Short Stature Homeobox (SHOX)-containing gene. Ten patients had short stature and one disproportionate (mesomelic) normal stature, while the last one had normal stature. Skeletal abnormalities, including shortened ulna, were detected in nine subjects, and in six of them Madelung deformity was observed. These clinical data indicated a genotype-phenotype correlation between haploinsufficiency of SHOX, and short stature and skeletal abnormalities.
Beschreibung:Elektronische Reproduktion der Druck-Ausgabe
First published: 24 December 2001
Gesehen am 25.03.2021
Beschreibung:Online Resource
ISSN:1399-0004
DOI:https://doi.org/10.1034/j.1399-0004.2000.570609.x

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