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Phenotypic effects of balanced X-autosome translocations in females: a retrospective survey of 104 cases reported from UK laboratories.

Human genetics - 1 Apr 2001

Waters J J, Campbell P L, Crocker A J, Campbell C M

Abstract excerpt

Females with balanced X-autosome translocations are a clinically heterogeneous group of patients in which X breakpoint position and replication behaviour may influence phenotypic outcome. This study reviewed all cases reported by UK cytogenetics laboratories over a 15-year period (1983-1997). Publication bias was avoided by reviewing all reported cases. One hundred and four female carriers were identified, 62 of...

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PMID: 11379878
DOI: 10.1007/s004390100465

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