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Published on: February 21, 2015
Double Segment Chromosomal Imbalance due to Inherited Chromosomal Translocation: Detection by Cytogenetic Microarray
Moni Tuteja1, Divya Agarwal, Shubha R Phadke
1Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India. Correspondence to: Dr Shubha R Phadke, Department of Medical Genetics, SGPGIMS, Lucknow, India. shubharaophadke@gmail.com.
Background:
Balanced translocations are common with the incidence of 1 in 500.
Case Characteristics:
Two cousins with intellectual disability with family history of holoprosencephaly.
Results:
Microarray showed gain on chromosome 7 and loss on chromosome 11 and vice versa in the other cousin.
Conclusion:
We highlight the importance of detailed family history, pedigree analysis, and utility of microarray.
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