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Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature

A female child born preterm with intrauterine growth retardation and presenting with facial dysmorphism with clefts, microcephaly, limb deformities, and congenital abnormalities involving cardiovascular and urinary systems is described. Chromosomal analysis showed a de novo 46,XX,r(4)(p15.3q35) kary...

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Vydáno v:Case Rep Genet
Hlavní autoři: Paththinige, C. S., Sirisena, N. D., Kariyawasam, U. G. I. U., Saman Kumara, L. P. C., Dissanayake, V. H. W.
Médium: Artigo
Jazyk:Inglês
Vydáno: Hindawi Publishing Corporation 2016
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5004004/
https://ncbi.nlm.nih.gov/pubmed/27610251
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2016/4645716
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