Correlation of clinical phenotype with a pericentric inversion of chromosome 9 and genetic counseling

摘要: OBJECTIVES To describe the history of 157 carriers pericentric inversions on chromosome 9 [inv9] with karyotype analyses and evaluate significance these findings. METHODS We studied incidence, clinical significance, genetic counseling inv9 p11;q12, p11;q13, p11;q21 patients who were referred to our laboratory from various clinics Medical Faculty, Cukurova University, Adana, Turkey retrospectively cases 15528 cytogenetic collected between May 1993 February 2007. RESULTS found incidence be 1.01%. From a review inv9, it is concluded that spontaneous abortion group 30.6% appeared high among adult inv9. The 17 have mental retardation, which gave an 10.8%. We here report findings had different problems. CONCLUSIONS Although, has been considered normal variant, observation implies possible association abnormalities, suggesting susceptibility locus for phenotypes may located at breakpoint inversion 9, lead cloning gene unspecified abnormalities. These could used widely in genetics, as effective tool reproductive guidance.