Double segment chromosomal imbalance due to inherited chromosomal translocation: Detection by cytogenetic microarray View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2017-10

AUTHORS

Moni Tuteja, Divya Agarwal, Shubha R. Phadke

ABSTRACT

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. More... »

PAGES

879-881

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s13312-017-1154-7

DOI

http://dx.doi.org/10.1007/s13312-017-1154-7

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1092343465

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/29120338


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