Article
Microarray based analysis of 3p25-p26 deletions (3p- syndrome).
American journal of medical genetics. Part A - 1 Oct 2009
Shuib Salwati, McMullan Dominic, Rattenberry Eleanor, Barber Richard M, Rahman Fatimah, Zatyka Malgosia, Chapman Cyril, Macdonald Fiona, Latif Farida, Davison Val, Maher Eamonn R
Abstract excerpt
Distal deletion of chromosome 3p25-pter (3p- syndrome) produces a distinct clinical syndrome characterized by low birth weight, mental retardation, telecanthus, ptosis, and micrognathia. Congenital heart disease (CHD), typically atrioventricular septal defect (AVSD) occurs in about a third of patients. Previously we reported on an association between the presence of CHD and the proximal extent of the deletion...
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