Paternal reciprocal translocation t(11;16)(p13;q24.3) in a Silver–Russel syndrome patient

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• 作者：Rao ; Vundinti Babu ; Lily ; Kerketta ; Seema ; Korgaonkar ; Ghosh ; Kanjaksha ; Dipika ; Mohanty
• 关键词：Silver&ndash ; Russel syndrome ; Chromosomal abnormality ; Paternal transmission ; Unbalanced translocation
• 刊名：Annales de Genetique
• 出版年：2003
• 出版时间：October - December, 2003
• 年：2003
• 卷：46
• 期：4
• 页码：475-478
• 全文大小：358 K

文摘

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.