title: Pattern of chromosomal aberrations in patients from north East iran.
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.
  
  
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: 1. Pardis Clinical and Genetics Laboratory, Mashhad, Iran.
authors.forename: Saeedeh
authors.initials: S
authors.lastname: Ghazaey
authors.forename: Farzaneh
authors.initials: F
authors.lastname: Mirzaei
authors.forename: Mitra
authors.initials: M
authors.lastname: Ahadian
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Keifi
authors.forename: Tootian
authors.initials: T
authors.lastname: Semiramis
authors.forename: Mohammad Reza
authors.initials: MR
authors.lastname: Abbaszadegan
keywords: Chromosomal Aberrations; Cytogenetic Analysis; North East Iran
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