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2014, Number 2

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Rev Cub Gen 2014; 8 (2)

Seckel syndrome. A case report

González AAM, Llauradó RRA

Language: Spanish
References: 30
Page: 52-56
PDF size: 694.88 Kb.


ABSTRACT

Seckel syndrome, is a genetic disorder characterized by microcephaly, prominent nose, very short stature, caused by mutations in the gene whose locus have been mapped in chromosomes 3, 10, 13, 14, 15 and 18. We describe a transitional white, male, 17 months of age, with the above-mentioned characteristics, where this condition was diagnosed. Chromosome study was carried out and the possibility of chromosomal abnormalities visible by conventional cytogenetic technics was discarded. It is important to know and identify the clinical manifestations of this syndrome to conduct its diagnosis, early rehabilitation and offer genetic counseling to the family about this syndrome which is very rare.


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