Investigation of a patient with a partial 16q trisomy

ABSTRACT: A female patient with a partial trisomy 16q was described previously. Her clinical characteristics included obesity, severe anisomastia, moderate to severe mental retardation, dysmorphic facies, and contractions of the small joints. In this paper, we describe a more detailed analysis of the genetic anomaly in this patient. We were particularly interested in the involvement of the fat mass and obesity associated gene (FTO) in her duplication. Single nucleotide polymorphisms in FTO have recently been associated with obesity. We have precisely mapped the breakpoints of the duplication using high resolution oligonucleotide array comparative genome hybridization (CGH). We found that the duplication spans 11.45 Mb on 16q11.2 to 16q13 and it includes FTO. The increased copy number of FTO was conf

ORGANISM(S): Homo sapiens

SUBMITTER: Serge Smeets 

PROVIDER: E-GEOD-12741 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress