Chromosome abnormality rate among Iranian patients with idiopathic mental retardation from consanguineous marriages

Behjati, Farkhondeh; Firouzabadi, Saghar Ghasemi; Kahrizi, Kimia; Kariminejad, Ariana; Bagherizadeh, Iman; Ansari, Javad; Fallah, Masoumeh; Mojtahedi, Forough; Darvish, Hossein; Monajemi, Gholamreza Bahrami; Abedini, Seyedeh Sedigheh; Jamali, Payman; Mojahedi, Faezeh; Zadeh‐Vakili, Azita; Najmabadi, Hossein

doi:10.5114/aoms.2011.22085

Cited by 9 publications

(6 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In a study among Slovakian mentally retarded patients, 32% of subjects demonstrated chromosomal abnormalities (19). A similar study performed by Behjati et al (13) in Iran showed that only 1.24% of mentally retarded patients from consanguineous marriages showed chromosomal abnormalities comprising translocation and paracentric inversions in chromosome 2, which is consistent with the findings of our study. It seems that the presence of paracentric and pericentric inversions in chromosomes 1 and 2 could be an identified chromosomal abnormality among Iranian mentally retarded patients.…”

Section: Discussionsupporting

confidence: 82%

“…In recent years, the application of novel techniques using high-resolution chromosome analysis has become more common, and the identification of most genetic defects caused by monogenic disorders has been facilitated (13,14). However, the diagnosis of the genetic reasons for mental retardation can be finalized in just half of all patients (15).…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Chromosomal Abnormalities in Idiopathic Mental Retardation Patients at a Charity Center in Hamadan, Iran

Etemadi¹

2016

Avicenna J Med Biochem

View full text Add to dashboard Cite

Background: Chromosomal aberrations are one of the most common causes of mental retardation (MR). Objectives: In this study, in order to identify the rate of chromosomal abnormalities in idiopathic MR, 50 MR patients at a charity center in Hamadan, Iran, were investigated. Methods: Fifty mentally retarded male patients without specific chromosomal abnormalities (e.g., Down syndrome, Fragile X syndrome, and Klinefelter syndrome) were included in the study. Standard cytogenetic techniques and high resolution GTG banding were performed on all the patients. Results: All the patients were male, with a mean age of 37.12 years. Skeletal and facial abnormalities were found in 8% and 22% of patients, respectively. All the patients showed a moderate to severe level of mental retardation. None of the patients had numerical chromosome abnormalities. Two out of the 50 patients (4%) demonstrated structural chromosomal abnormalities. One patient had a paracentric inversion in chromosome 1, while the other had a pericentric inversion in chromosome 2. Conclusions: The presence of structural chromosomal abnormalities (4%) in the studied MR patient population emphasizes the importance of cytogenetic investigation for all idiopathic MR patients.

show abstract

Section: Discussionsupporting

confidence: 82%

Section: Introductionmentioning

confidence: 99%

Chromosomal Abnormalities in Idiopathic Mental Retardation Patients at a Charity Center in Hamadan, Iran

Etemadi¹

2016

Avicenna J Med Biochem

View full text Add to dashboard Cite

show abstract

“…The reports on the chromosome abnormality rate in Iranian patients with mental retardation are limited. A study by Behjati et al ( 21 ) reported the rate of chromosome abnormality in Iranian patients with idiopathic mental retardation with consanguineous parents as 1.24%, which is rather low. In this study the subtelomeric abnormalities are reported in some Iranian patients with idiopathic mental retardation.…”

Section: Discussionmentioning

confidence: 95%

Identification of Chromosome Abnormalities in Subtelomeric Regions Using Multiplex Ligation Dependent Probe Amplification (MLPA) Technique in 100 Iranian Patients With Idiopathic Mental Retardation

Behjati¹,

Firouzabadi²,

Sajedi³

et al. 2013

Iran Red Crescent Med J

Self Cite

View full text Add to dashboard Cite

BackgroundMental retardation/Developmental delay (MR/DD) is present in 1 - 3% of the general population (1, 2). MR is defined as a significant impairment of both cognitive (IQ < 70) and social adaptive functions, with onset before 18 years of age.ObjectivesThe purpose was to determine the results of subtelomeric screening by the Multiplex Ligation Dependent Probe Amplification (MLPA) Technique in 100 selected patients with idiopathic mental retardation (IMR) in Iran.Materials and MethodsA number of 100 patients with IMR, normal karyotypes and negative fragile-X and metabolic tests were screened for subtelomeric abnormalities using MLPA technique.ResultsNine of 100 patients showed subtelomeric abnormalities with at least one of the two MLPA kits. Deletion in a single region was found in 3 patients, and in two different subtelomeric regions in 1 patient. Duplication was only single and was present in 2 patients. Three patients were found to have both a deletion and duplication.MLPA testing in the parental samples of 7 patients which was accessible showed that 4 patients were de novo, 2 patients had inherited from a clinically normal mother, and one had inherited from a clinically normal father. Screening with the two MLPA kits (SALSA P036 and SALSA P070) proved abnormality in only five of the 9 patients.ConclusionsSo, the prevalence rate of abnormal subtelomeres using MLPA technique in patients with idiopathic MR in our study was 5 - 9%, the higher limit referring to the positive results of one of the two MLPA kits, and the lower limit representing the results of positive double-checking with the two MLPA kits.

show abstract

“…Congenital anomalies are among the leading causes of infant mortality and morbidity around the world responsible for over 300,000 neonatal deaths in 2015 [1]. The effect of birth defects is mainly severe in the middle-and low-income countries where health care resources are limited compared to high-income countries [3,4]. The long-term disability caused by congenital anomalies may have a significant impact not only on a child's well-being and development but also on families, health care systems and societies [2].…”

Section: Introductionmentioning

confidence: 99%

“…Among genetic causes, chromosomal abnormality makes up about 6%, single gene disorders about 25%, and multifactorial about 20-30%. In about 50% of cases, the cause is unknown [4]. Potential risk factors that have contributors to congenital malformations includes low socioeconomic and parents educational levels, malnutrition (micronutrient and macronutrient), maternal infections ( e.g.…”

Section: Introductionmentioning

confidence: 99%

A Case-Control Study for Assessing Risk Factors for Congenital Anomalies among Children in Sulaimani City

2018

KJAR

View full text Add to dashboard Cite

Congenital anomalies comprise a wide range of abnormalities in body structure or function that are present at birth and are of prenatal origin. These are defined as structural changes that have significant medical, social or cosmetic consequences for the affected individual, and typically require medical intervention. According to our Knowledge, research is scarce on these conditions in Sulaimaniyah city. Therefore, the current study was conducted to investigate potential risk factors for congenital anomalies. A case-control study was carried out from March to August 2017 involving 400 children (200 cases and 200 controls) aged 0-5 years. Required data were obtained on the risk factors through face to face interviews with mothers of cases and controls. The data were using descriptive statistical methods, Chi-square and Logistic Regression using STATA 11, calculating odds ratios and condensing P value less than 0.05 as statistically significant. The mean age of the children was 1.9 years and age of their mothers at the time of pregnancy was 28 years. Congenital heart anomalies were the commonest type accounting for 27.5%. Significant risk factors for congenital anomalies were family history (OR=2.24, P= 0.007), maternal obesity (OR= 2.26, P= 0.001), mothers age over 30 (OR=2.78, P= 0.002) and mothers not using folic acid during pregnancy (OR=2.12, P= 0.0007). In general, in order to control and prevent the cases of CM, it is important to provide health education and policies to reduce environmental and maternal risk factors. Further, studies with larger sample size are needed to investigate incidence and risk factors of congenital anomalies.

show abstract

Chromosome abnormality rate among Iranian patients with idiopathic mental retardation from consanguineous marriages

Cited by 9 publications

References 19 publications

Chromosomal Abnormalities in Idiopathic Mental Retardation Patients at a Charity Center in Hamadan, Iran

Chromosomal Abnormalities in Idiopathic Mental Retardation Patients at a Charity Center in Hamadan, Iran

Identification of Chromosome Abnormalities in Subtelomeric Regions Using Multiplex Ligation Dependent Probe Amplification (MLPA) Technique in 100 Iranian Patients With Idiopathic Mental Retardation

A Case-Control Study for Assessing Risk Factors for Congenital Anomalies among Children in Sulaimani City

Contact Info

Product

Resources

About