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2013, Number 1

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Rev Cub Gen 2013; 7 (1)

Pericentric inversion of chromosome 11: A case presentation

de León LN, Pérez RM, Amor OMT, Ramos DD, García LK, García OMC

Language: Spanish
References: 13
Page: 47-49
PDF size: 382.92 Kb.


ABSTRACT

Inversions are structural rearrangements caused by the rotation of a chromosomal segment; if the segment contains the centromere, the inversion is called pericentric, otherwise it is paracentric. A prenatal cytogenetic diagnosis in amniotic liquid was carried out to a 16-week pregnant patient referred for maternal advanced age. A pericentric inversion of chromosome 11: 46,XX, inv(11)(p15-q12) was detected. Both parents were studied and both showed normal karyotypes, so this was considered to be a de novo aberration. After receiving genetic counseling, the couple decided to continue gestation. There are no evidences of clinical consequences caused by this inversion.


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