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Information Journal Paper

Title

PATTERN OF CHROMOSOMAL ABERRATIONS IN PATIENTS FROM NORTH EAST IRAN

Pages

  258-265

Abstract

 Objective: CHROMOSOMAL ABERRATIONS are common causes of multiple anomaly syndromes. Recurrent CHROMOSOMAL ABERRATIONS have been identified by conventional cytogenetic methods used widely as one of the most important clinical diagnostic techniques.Materials and Methods: In this retrospective study, the incidences of CHROMOSOMAL ABERRATIONS were evaluated in a six year period from 2005 to 2011 in Pardis Clinical and Genetics Laboratory on patients referred to from Mashhad and other cities in Khorasan province. Karyotyping was performed on 3728 patients suspected of having chromosomal abnormalities.Results: The frequencies of the different types of chromosomal abnormalities were determined, and the relative frequencies were calculated in each group. Among these patients, 83.3% had normal karyotypes with no aberrations. The overall incidences of chromosomal abnormalities were 16.7% including sex and autosomal chromosomal anomalies. Of those, 75.1% showed autosomal CHROMOSOMAL ABERRATIONS. Down syndrome (DS) was the most prevalent autosomal aberration in the patients (77.1%). Pericentric inversion of chromosome 9 was seen in 5% of patients. This inversion was prevalent in patients with recurrent spontaneous abortion (RSA). Sex CHROMOSOMAL ABERRATIONS were observed in 24.9% of abnormal patients of which 61% had Turner’s syndrome and 33.5% had Klinefelter’s syndrome.Conclusion: According to the current study, the pattern of CHROMOSOMAL ABERRATIONS in North East of Iran demonstrates the importance of cytogenetic evaluation in patients who show clinical abnormalities. These findings provide a reason for preparing a local cytogenetic data bank to enhance genetic counseling of families who require this service.

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References

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APA: Copy

GHAZAEY, SAEEDEH, MIRZAEI, FARZANEH, AHADIAN, MITRA, KEIFI, FATEMEH, TOOTIAN, SEMIRAMIS, & ABBASZADEGAN, MOHAMMAD REZA. (2013). PATTERN OF CHROMOSOMAL ABERRATIONS IN PATIENTS FROM NORTH EAST IRAN. CELL JOURNAL (YAKHTEH), 15(3 (59)), 258-265. SID. https://sid.ir/paper/610640/en

Vancouver: Copy

GHAZAEY SAEEDEH, MIRZAEI FARZANEH, AHADIAN MITRA, KEIFI FATEMEH, TOOTIAN SEMIRAMIS, ABBASZADEGAN MOHAMMAD REZA. PATTERN OF CHROMOSOMAL ABERRATIONS IN PATIENTS FROM NORTH EAST IRAN. CELL JOURNAL (YAKHTEH)[Internet]. 2013;15(3 (59)):258-265. Available from: https://sid.ir/paper/610640/en

IEEE: Copy

SAEEDEH GHAZAEY, FARZANEH MIRZAEI, MITRA AHADIAN, FATEMEH KEIFI, SEMIRAMIS TOOTIAN, and MOHAMMAD REZA ABBASZADEGAN, “PATTERN OF CHROMOSOMAL ABERRATIONS IN PATIENTS FROM NORTH EAST IRAN,” CELL JOURNAL (YAKHTEH), vol. 15, no. 3 (59), pp. 258–265, 2013, [Online]. Available: https://sid.ir/paper/610640/en

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