Clinical characterization of a de novo partial trisomy 22[pter-q12] in a female patient using FISH

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

Psychological and psychiatric aspects of Turner syndrome: genotypic or environmental effects?

10 girls with Turner syndrome [Karyotype] and 11 Turner-Like girls [without chromosomal aberration] were properly matched and investigated using the psychiatric intervies, WICS, BSRI, CBCL and SCL-90 and the results were compared. The results revealed that both groups had cognitive deficit characterized by discrepancy between performance IQ and verbal IQ. Performance IQ scores were much less than verbal ones. No substantial gender identify disturbance was detected in both groups. Except for an equally high tendency for interpersonal sensitivity on the SCL-90 in both groups, results on all measures of behavior and psychiatric status were nearly within normal for the two groups. To conclude, the so called characteristic style of Turner syndrome on intelligence tests may not be characteristic as it was equally identified in Turner-Like girls. The findings did not support the hypothesis that the chromosomal anomaly is considered responsible for such characteristic style, but suggested the possible effective role of environmental factors, arising secondary to the physical characteristics of the syndrome