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CASE REPORTS
JOURNAL ARTICLE
Double Segment Chromosomal Imbalance due to Inherited Chromosomal Translocation: Detection by Cytogenetic Microarray.
Indian Pediatrics 2017 October 16
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.
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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