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ISSN 2992-779X (Electronic)
ISSN 2007-6452 (Print)

2014, Number 4

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Investigación en Discapacidad 2014; 3 (4)

Dynamic mosaicism in a female patient with ring-shaped 18 chromosome

Díaz GM, Bautista TMT, Arenas DSMC, Leyva GN

Language: Spanish
References: 13
Page: 185-189
PDF size: 470.58 Kb.


ABSTRACT

Ring 18 chromosome or [r(18)] is a structural re-arrangement when become broken its both ends and become fused to form a ring. Patients who have [r(18)] may develop such an 18q or 18p deletion syndrome depending on the size of deleted regions. So phenotype will depend at last on the magnitude of reduction in the r(18) chromosome. This paper presents the clinical analysis and cytogenetic study of a patient with dynamic mosaicism ring chromosome 18.


REFERENCES

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