Paternal reciprocal translocation t(11;16)(p13;q24.3) in a Silver-Russel syndrome patient.
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.
Rao
Vundinti Babu
VB
Institute of Immunohaematology (ICMR), 13th floor, New Multistoryed Building, K.E.M. Hospital Campus, Parel, Mumbai 400 012, India.
Lily
Kerketta
K
Seema
Korgaonkar
K
Ghosh
Kanjaksha
K
Dipika
Mohanty
M
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