Literature DB >> 10543407

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

G Calabrese1, R Fischetto, L Stuppia, F Capodiferro, R Mingarelli, F Causio, M Rocchi, G A Rappold, G Palka.   

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.

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Year:  1999        PMID： 10543407     DOI： 10.1007/s004399900113

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  5 in total

1.  Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay.

Authors:  Valentina Gatta; Ivana Antonucci; Elisena Morizio; Chiara Palka; Rita Fischetto; Vahe Mokini; Stefano Tumini; Giuseppe Calabrese; Liborio Stuppia
Journal:  J Hum Genet       Date:  2006-11-08       Impact factor: 3.172

2.  SHOX haploinsufficiency presenting with isolated short long bones in the second and third trimester.

Authors:  Shwetha Ramachandrappa; Abhijit Kulkarni; Hina Gandhi; Cheryl Ellis; Renata Hutt; Lesley Roberts; Rosol Hamid; Aris Papageorghiou; Sahar Mansour
Journal:  Eur J Hum Genet       Date:  2018-01-12       Impact factor: 4.246

3.  Long-term follow-up of females with unbalanced X;Y translocations-reproductive and nonreproductive consequences.

Authors:  Whitney A Dobek; Hyung-Goo Kim; Cedric A Walls; Lynn P Chorich; Sandra Pt Tho; Zi-Xuan Wang; Paul G McDonough; Lawrence C Layman
Journal:  Mol Cytogenet       Date:  2015-02-22       Impact factor: 2.009

Review 4.  A Track Record on SHOX: From Basic Research to Complex Models and Therapy.

Authors:  Antonio Marchini; Tsutomu Ogata; Gudrun A Rappold
Journal:  Endocr Rev       Date:  2016-06-29       Impact factor: 19.871

5.  Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region.

Authors:  Valentina Gatta; Chiara Palka; Valentina Chiavaroli; Sara Franchi; Giovanni Cannataro; Massimo Savastano; Antonio Raffaele Cotroneo; Francesco Chiarelli; Angelika Mohn; Liborio Stuppia
Journal:  BMC Med Genet       Date:  2014-07-23       Impact factor: 2.103
  5 in total

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