Jacobsen syndrome (JS) is a rare contiguous gene disorder caused by partial deletion of the distal part of the long arm of chromosome 11 ranging in size from 7 to 20 Mb. We report a term male neonate with an interstitial deletion of about 12.3 megabase (Mb) of chromosome 11q24.1qter. Our case is the first reported newborn patient with 11q24 deletion.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028426 | PMC |
http://dx.doi.org/10.1002/ccr3.1560 | DOI Listing |
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