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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Bibliografiska uppgifter
Huvudupphovsmän: Sheth, Frenny J, Datar, Chaitanya, Andrieux, Joris, Pandit, Anand, Nayak, Darshana, Rahman, Mizanur, Sheth, Jayesh J
Materialtyp: Artigo
Språk:Inglês
Publicerad: Libertas Academica 2014
Ämnen:
Case Report
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4179602/
https://ncbi.nlm.nih.gov/pubmed/25288895
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4137/CMPed.S18121
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