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2018, Number 2

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Rev Cub Gen 2018; 12 (2)

Duplication de novo 10p14 associated with intellectual disability and agenesis of corpus callosum

Torriani MGP, Barrios MA, Lantigua CA, Maceira RL, Méndez RLA

Language: Spanish
References: 20
Page: 1-9
PDF size: 126.88 Kb.


ABSTRACT

Introduction: Duplications are unbalanced structural chromosomal aberrations that affect the genome due to an increase in the gene dosage. According to international literature, chromosome 10 is the most affected by its relationship with intellectual disability and its clinical repercussion.
Objective: Describe the correlation between the chromosomal finding and the clinic of the patient with intellectual disability.
Case presentation: Case presentation: A cytogenetic study was conducted in the cytogenetics laboratory of the National Center of Medical Genetics, a male patient who was referred for indication that suspected a chromosomal aberration. To perform the karyotype, the technique of lymphocyte culture without exogenous serum and GTG bands was used, according to standardized laboratory techniques. The karyotype revealed an apparent duplication of the short arm of chromosome 10, whose formula is 46, XY, dup (10) (p14p14). Likewise, the karyotype of the parents is normal 46, XX and 46, XY.
Conclusions: Most of the clinical characteristics detected in the patient coincide with the 10p partial trisomy, except for the finding of a corpus callosum agenesis. We contributed to the genetic counseling of the family by identifying the etiological nature of the affectation.


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