ABSTRACT
Goldenhar sequence is a common birth defect of heterogeneous etiology. Most cases are sporadic. The phenotype is highly variable. Several chromosomal abnormalities have been reported in patients with Goldenhar sequence. In this study we report a 6.5 years old female patient presented clinically with manifestations of Goldenhar sequence. The karyotype revealed a de novo nonmosaic supernumerary marker [47, XX, +mar]. Application of FISH technique using both whole painting chromosome 22 probe and VCF/DGS specific locus probe for 22q11 [N 25 DiGeorge region probe with control, Oncor], showed partial trisomy 22 [22pter22q12]. Comparing our findings with the two previously rare reported cases in literature, the present study strengthens the concept of Goldenhar sequence and trisomy 22 association. Thus, raising the possibility of existence of undetectable gene or genes on 22pter-22q12 region, proposed to be responsible for manifestations of Goldenhar sequence. To our knowledge, this is the first Egyptian case to be reported as having Goldenhar sequence and partial trisomy 22. We recommend combined karyotyping and FISH technique for all cases of Goldenhar sequence to confirm and or clarify this implication for proper genetic counseling