Ventriculomegaly and cerebellar hypoplasia in a neonate with interstitial 11q 24 deletion in Jacobsen syndrome region. Issue 7 (22nd May 2018)

• Record Type: Journal Article
• Authors: Puvabanditsin, Surasak; Chen, Charlotte Wang; Botwinick, Marissa; Hussein, Karen; Mariduena, Joseph; Mehta, Rajeev
• Is Part Of: Clinical case reports. Volume 6:Issue 7(2018)
• Page Start: 1268
• Page End: 1275
• Publication Date: 2018-05-22
• Subjects: chromosomal anomaly -- Jacobsen syndrome -- Partial deletion 11q; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.1560
• Languages: English
• ISSNs: 2050-0904

Abstract

Key Clinical Message: 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. Abstract : 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.