García GD, Rojas BI, González GN, Barrios MA, Méndez RLA, García RM, Cabrera HM

Language: Spanish
References: 29
Page: 57-61
PDF size: 885.82 Kb.

ABSTRACT

Greig Cephalopolysyndactyly Syndrome was first described by Greig in 1926. The phenotypic findings include macrocephaly, hypertelorism, pre- and postaxial polydactyly, cutaneous syndactyly, and occasionally mental retardation and nervous system anomalies. Intrafamilial and interfamilial phenotypic variability have been generally observed. The disorder is caused by point mutations or deletions in the GLI3 gene, located on chromosome 7p14.3. Chromosomes were prepared from peripheral blood lymphocytes from the mother and the first son and the amniotic fluid of the fetus. The karyotype were processed using cytovision system software. We report here family with three affected members. The index patient is a fetus. Fetal karyotype analysis revealed a reciprocal translocation t(3;7)(p25;p12) . The mother and the first son, who had both Greig cephalopolysyndactyly syndrome, were found to have identical balanced reciprocal translocation. At birth, a preaxial feet polydactyly and broad forehead, was described, and confirmed the diagnosis of Greig cephalopolysyndactyly syndrome. The genomic complexity that may be associated with apparently simple translocations was totally unexpected. The physical exam, family study and breakpoints characterization are therefore mandatory for risk estimation.

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