Leri-Weill syndrome associated with a pseudodicentric X;Y translocation chromosome and skewed X-inactivation: Implications for genetic counselling

American Journal of Medical Genetics

Volumn 95, Issue 4, 2000, Pages 391-395

  Baralle, D ^a   Willatt, L R ^a   Shears, D J ^b  

^a ADDENBROOKE S HOSPITAL   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Leri Weill syndrome; Madelung deformity; SHOX gene; X; Y translocation

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CHROMOSOME BREAKAGE; CHROMOSOME TRANSLOCATION X; CHROMOSOME TRANSLOCATION Y; DYSCHONDROSTEOSIS; FEMALE; GENETIC COUNSELING; HUMAN; MENTAL DEFICIENCY; PRIORITY JOURNAL; SHORT STATURE; X CHROMOSOME INACTIVATION; CHONDRODYSPLASIA; CHROMOSOME ABERRATION; CHROMOSOME DISORDER; GENE EXPRESSION REGULATION; GENE TRANSLOCATION; GENETICS; HOMEOBOX; PEDIGREE; RADIOGRAPHY; SYNDROME; X CHROMOSOME; Y CHROMOSOME;

HOMEODOMAIN PROTEIN; MICROSATELLITE DNA; SHOX PROTEIN, HUMAN;

ADOLESCENT; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; DOSAGE COMPENSATION, GENETIC; FEMALE; GENES, HOMEOBOX; GENETIC COUNSELING; HOMEODOMAIN PROTEINS; HUMANS; MICROSATELLITE REPEATS; OSTEOCHONDRODYSPLASIAS; PEDIGREE; SYNDROME; TRANSLOCATION, GENETIC; X CHROMOSOME; Y CHROMOSOME;

EID: 0034638824     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20001211)95:4<391::AID-AJMG17>3.0.CO;2-2     Document Type: Article

References (19)

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13. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
14. Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis
15. Molecular studies of an X;Y translocation chromosome in a woman with deletion of the pseudoautosomal region but normal height
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