Article
Paternal reciprocal translocation t(11;16)(p13;q24.3) in a Silver-Russel syndrome patient.
Annales de genetique - 1 Jan 2000
Rao Vundinti Babu, Lily Kerketta, Seema Korgaonkar, Ghosh Kanjaksha, Dipika Mohanty
Abstract excerpt
We describe a 7-month-old male child with Silver-Russel syndrome (SRS) phenotype, presented with two major clinical features: low birth weight, short stature, and minor features, such as macrocephaly, clinodactyly, essential for the diagnosis of SRS. Routine cytogenetic studies with GTG-banding showed 46,XY,t(11;16)(p13;q24.3). Fluorescence in situ hybridisation (FISH) with single copy probes BAC (11p13) and PAC...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
