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...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Human genetics 1999-10, Vol.105 (4), p.367-368
Hauptverfasser:	CALABRESE, G, FISCHETTO, R, STUPPIA, L, CAPODIFERRO, F, MINGARELLI, R, CAUSIO, F, ROCCHI, M, RAPPOLD, G. A, PALKA, G
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Biological and medical sciences Child Diseases of the osteoarticular system DNA-Binding Proteins - genetics Female Homeodomain Proteins - genetics Humans In Situ Hybridization, Fluorescence Male Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical sciences Nuclear Proteins Osteochondrodysplasias - genetics Sex-Determining Region Y Protein Short Stature Homeobox Protein Transcription Factors Translocation, Genetic X Chromosome - genetics Y Chromosome - genetics
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

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.
ISSN:	0340-6717 1432-1203
DOI:	10.1007/s004399900113