Distal Deletion of Chromosome 11q Encompassing Jacobsen Syndrome without Platelet Abnormality
Terminal 11q deletion, known as Jacobsen syndrome (JBS), is a rare genetic disorder associated with numerous dysmorphic features. We studied two cases with multiple congenital anomalies that were cytogenetically detected with deletions on 11q encompassing JBS region: 46,XX,der(11) del(11)(q24). Arra...
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Veröffentlicht in: | Clinical Medicine Insights: Pediatrics 2014-01, Vol.2014 (2014), p.45-49 |
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