title: Paternal reciprocal translocation t(11;16)(p13;q24.3) in a Silver-Russel syndrome patient.
abstract: 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 (16q24.3), showed a reciprocal translocation. Chromosomal analysis of the mother was normal and the phenotypically normal father had apparently identical translocation t(11;16)(p13;q24.3). The disruption of growth factor genes at 11p and 16q breakpoint regions due to reciprocal translocation in the father might have caused SRS phenotype in the child.
authors.affiliation: Institute of Immunohaematology (ICMR), 13th floor, New Multistoryed Building, K.E.M. Hospital Campus, Parel, Mumbai 400 012, India.
authors.forename: Vundinti Babu
authors.initials: VB
authors.lastname: Rao
authors.forename: Kerketta
authors.initials: K
authors.lastname: Lily
authors.forename: Korgaonkar
authors.initials: K
authors.lastname: Seema
authors.forename: Kanjaksha
authors.initials: K
authors.lastname: Ghosh
authors.forename: Mohanty
authors.initials: M
authors.lastname: Dipika
mesh_terms: D001724:Birth Weight; D001827:Body Height; D002880:Chromosomes, Human, Pair 11; D002885:Chromosomes, Human, Pair 16; D005385:Fingers / Q000002:abnormalities; D006130:Growth Disorders / Q000235:genetics*; D006257:Head / Q000033:anatomy & histology*; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D013577:Syndrome; D014178:Translocation, Genetic