Pericentric inversion of chromosome 9[inv(9)(p12q13)]: Its association with genetic diseases

BACKGROUND: The chromosomal polymorphism of short chromosomal polymorphism of short arms of acrocentric arms of acrocentric chromosomes and heterochromatin chromosomes and heterochromatin variations of variation of Chromosomes 1, 9, 16 and Y have been chromosomes 1, 9, 16 and Y also have been reported reported in humans. The pericentr ic inversion of Chromosome 9 is commonly seen in normal humans and in humans. [3] The pericentric inversion of Chromosome the frequency estimated to be 1 to 3% in general population 9 or inv(9) is commonly seen in normal humans and the and inherited in mendalian fashion or might occur frequency estimated to be 1 to 3% in general spontaneously without any clinical significance. AIM: The aim of the study was to study the frequency of population. The inv(9)(p12q13) also been reported inv(9) and its clinical correlation with human genetic in various human diseases such as couples with MATERIALS AND METHODS: The chromosomal analysis repeated spontaneous abortions, bad obstetric history, using GTG-banding was carried out in 3,392 cases infertility and congenital anomalies. In our study for suspected with genetic diseases. the first time we have correlated inv(9)(p12q13) with RESULTS: The pericentric inversion frequency of different chromosomes in our study was 1.24% and frequency of various human disease conditions. inv(9)(p12q13) was high (64.29%) compared to other pericentric inversions in our study. A high frequency (9.33%) of inv(9)(p12q13) was detected in children with dysmorphic Materials and Methods features and congenital anomalies. CONCLUSION: As a high frequency of inv(9)(p12q13) detected in children with dysmorphic features, the inv(9) During a five year period (2000-2005), cytogenetic definitely have a role in the abnormal phenotype study was carried out in 3,392 patients suspected with development. During inversion event there might be loss or suppression of euchromatin chromosome region and genetic diseases. The patients clinical details, age, sex, hence detailed chromosomal break point study is important consanguinity, income, living environment etc. were to understand the clinical significance of the pericentric recorded in the pro forma. The pedigree analysis was diseases.