Article
Molecular cytogenetic characterization of a familial der(1)del(1)(p36.33)dup(1)(p36.33p36.22) with variable phenotype.
American journal of medical genetics. Part A - 1 Dec 2005
Tonk Vijay S, Wilson Golder N, Yatsenko Svetlana A, Stankiewicz Pawel, Lupski James R, Schutt Robert C, Northup J K, Velagaleti Gopalrao V N
Abstract excerpt
Chromosome deletions involving 1p36 are the most common known terminal rearrangements occurring at a frequency of approximately 1 in 5,000 live births. In contrast, duplications of the same region have been reported rarely. We describe a familial rearrangement der(1)del(1)(p36.33)dup(1)(p36.33p36.22) identified in a mother, daughter, and son. These individuals help define a syndrome with variable mental...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.