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

Giuseppe Calabrese; Rita Fischetto; Liborio Stuppia; Francesca Capodiferro; Rita Mingarelli; Franco Causio; Mariano Rocchi; Gudrun A. Rappold; Giandomenico Palka

doi:10.1007/s004390051116

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

Giuseppe Calabrese, Rita Fischetto, Liborio Stuppia, Francesca Capodiferro, Rita Mingarelli, Franco Causio, Mariano Rocchi, Gudrun A. Rappold, Giandomenico Palka

Ospedale Pediatrico Bambino Gesu

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	367-368
Number of pages	2
Journal	Human Genetics
Volume	105
Issue number	4
DOIs	https://doi.org/10.1007/s004390051116
Publication status	Published - 1999

ASJC Scopus subject areas

Genetics(clinical)
Genetics

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title = "X/Y translocation in a family with Leri-Weill dyschondrosteosis",

abstract = "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.",

author = "Giuseppe Calabrese and Rita Fischetto and Liborio Stuppia and Francesca Capodiferro and Rita Mingarelli and Franco Causio and Mariano Rocchi and Rappold, {Gudrun A.} and Giandomenico Palka",

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journal = "Human Genetics",

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AU - Calabrese, Giuseppe

AU - Fischetto, Rita

AU - Stuppia, Liborio

AU - Capodiferro, Francesca

AU - Mingarelli, Rita

AU - Causio, Franco

AU - Rocchi, Mariano

AU - Rappold, Gudrun A.

AU - Palka, Giandomenico

PY - 1999

Y1 - 1999

N2 - 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.

AB - 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.

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