Dermatoglyphic assessment in down and klinefelter syndromes

Dermatoglyphics are the dermal ridge configurations on the digits, palms and soles. Dermatoglyphic polymorphism results from the co-operation of genetic and environmental factors. The Dermatoglyphic analysis is a valuable completion of initial diagnosis of some syndromes genetically determined. Our objective was to assess dermatoglyphics study results against standard chromosomal analysis in Down and Klinefelter syndromes. In this study we applied clear plastic tape and graphite powder for finger and palm prints of 90 persons. Cy-togenetic study was also performed for patients with Down [n=29] and Klinefelter [n=22] syndromes and 39 normal individuals who served as the control group. Dermatoglyphic investigations indicated that in Down syndrome, simian line, ulnar loops, whorl, t", t" and f were significant, whereas arch and interdigital III pattern were more indicative for Klinefelter syndrome. Dermatoplyphic can be used both as an initial diagnostic step and for screening purposes

Effects of karyotype variations on phenotype of patients with turner syndrome

Turner syndrome [TS] is a sporadic disorder caused by the absence of all or some parts one X-chromosome with major developmental consequences such as short stature and ovarian failure etc. The minor manifestations of TS are cubitus valgus, micrognatism, high-arched palate, short and/or webbed neck, hypothyroidism, etc. Different karyotype abnormalities may lead to different clinical features; therefore, in this study we have tried to postulate karyotype-phenotype correlations in these patients. In order to assess karyotype-phenotype correlations, 209 proven TS patients were studied and chromosomal analysis was performed on the basis of G-banding technique at high resolution. According to cytogenetic findings, karyotype abnormalities were classified into four groups: classic form 19%; mosaic form 76%; long arm isochromosome 4% and short arm deletion 1%. Clinical manifestations were more severe in classic TS rather than the other forms of chromosomal abnormalities. The results of this study suggest that karyotype variations might affect phenotype of Turner syndrome. Therefore, chromosomal investigation for all suspected cases of Turner syndrome should be considered in order to approach an appropriate treatment protocol