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X/Y translocation in a family with Leri-Weill dyschondrosteosis

An X/Y translocation associated with Leri-Weill dyschondrosteosis (LWD) was detected in a boy and in his mother. FISH analysis with specific probes for SHOX and SRY displayed no signal on the der(X), while one signal for SHOX was detected on the normal X chromosome in the mother, and one signal each...

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Bibliographische Detailangaben
Hauptverfasser: Calabrese, Gaetano (VerfasserIn) , Fischetto, Rita (VerfasserIn) , Stuppia, Liborio (VerfasserIn) , Capodiferro, Francesca (VerfasserIn) , Mingarelli, Rita. (VerfasserIn) , Causio, Franco (VerfasserIn) , Rocchi, Mariano (VerfasserIn) , Rappold, Gudrun (VerfasserIn) , Palka, Giandomenico (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 25 August 1999
In: Human genetics
Year: 1999, Jahrgang: 105, Heft: 4, Pages: 367-368
ISSN:1432-1203
DOI:10.1007/s004399900113
Online-Zugang:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1007/s004399900113
Volltext
Verfasserangaben:Giuseppe Calabrese, Rita Fischetto, Liborio Stuppia, Francesca Capodiferro, Rita Mingarelli, Franco Causio, Mariano Rocchi, Gudrun A. Rappold, Giandomenico Palka
Beschreibung
Zusammenfassung:An X/Y translocation associated with Leri-Weill dyschondrosteosis (LWD) was detected in a boy and in his mother. FISH analysis with specific probes for SHOX and SRY displayed no signal on the der(X), while one signal for SHOX was detected on the normal X chromosome in the mother, and one signal each for SHOX and SRY was detected on the normal Y chromosome in the proband.
Beschreibung:Gesehen am 07.04.2021
Beschreibung:Online Resource
ISSN:1432-1203
DOI:10.1007/s004399900113

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