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Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(S) in Fifty Iranian Patients With Multiple Congenital Anomalies Publisher



Mohammadzadeh A1 ; Akbaroghli S2, 3 ; Aghaeimoghadam E4 ; Mahdieh N5 ; Badv RS4 ; Jamali P6 ; Kariminejad R7 ; Chavoshzadeh Z8, 9 ; Firouzabadi SG1 ; Ghanaie RM9 ; Nozari A1 ; Banihashemi S1 ; Hadipour F10, 11 ; Hadipour Z10, 11 Show All Authors
Authors
  1. Mohammadzadeh A1
  2. Akbaroghli S2, 3
  3. Aghaeimoghadam E4
  4. Mahdieh N5
  5. Badv RS4
  6. Jamali P6
  7. Kariminejad R7
  8. Chavoshzadeh Z8, 9
  9. Firouzabadi SG1
  10. Ghanaie RM9
  11. Nozari A1
  12. Banihashemi S1
  13. Hadipour F10, 11
  14. Hadipour Z10, 11
  15. Kariminejad A7
  16. Najmabadi H1, 7
  17. Shafeghati Y10, 11
  18. Behjati F1, 10, 11
Show Affiliations
Authors Affiliations
  1. 1. Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
  2. 2. Pediatric Neurology Research Center, Mofid Children’s Hospital, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  3. 3. Clinical Genetics Division, Mofid Children’s Hospital, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  4. 4. Children’s Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran
  5. 5. Cardiogenetic Research Laboratory, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran
  6. 6. Genetic Counseling Center, Shahroud Welfare Organization, Shahroud, Iran
  7. 7. Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran
  8. 8. Department of Immunology and Allergy, Mofid Children’s Hospital, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  9. 9. Pediatric Infections Research Center, Research Institute for Children’s Health, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  10. 10. Sarem Fertility and Infertility Research Center (SAFIR), Sarem Women’s Hospital, Tehran, Iran
  11. 11. Sarem Cell Research Center (SCRC), Sarem Women’s Hospital, Tehran, Iran

Source: Cell Journal Published:2019


Abstract

Objective: Major birth defects are inborn structural or functional anomalies with long-term disability and adverse impacts on individuals, families, health-care systems, and societies. Approximately 20% of birth defects are due to chromosomal and genetic conditions. Inspired by the fact that neonatal deaths are caused by birth defects in about 20 and 10% of cases in Iran and worldwide respectively, we conducted the present study to unravel the role of chromosome abnormalities, including microdeletion/microduplication(s), in multiple congenital abnormalities in a number of Iranian patients. Materials and Methods: In this descriptive cross-sectional study, 50 sporadic patients with Multiple Congenital Anomalies (MCA) were selected. The techniques employed included conventional karyotyping, fluorescence in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA), and array comparative genomic hybridisation (array-CGH), according to the clinical diagnosis for each patient. Results: Chromosomal abnormalities and microdeletion/microduplication(s) were observed in eight out of fifty patients (16%). The abnormalities proved to result from the imbalances in chromosomes 1, 3, 12, and 18 in four of the patients. However, the other four patients were diagnosed to suffer from the known microdeletions of 22q11.21, 16p13.3, 5q35.3, and 7q11.23. Conclusion: In the present study, we report a patient with 46,XY, der(18)[12]/46,XY, der(18), +mar[8] dn presented with MCA associated with hypogammaglobulinemia. Given the patient’s seemingly rare and highly complex chromosomal abnormality and the lack of any concise mechanism presented in the literature to justify the case, we hereby propose a novel mechanism for the formation of both derivative and ring chromosome 18. In addition, we introduce a new 12q abnormality and a novel association of an Xp22.33 duplication with 1q43q44 deletion syndrome. The phenotype analysis of the patients with chromosome abnormality would be beneficial for further phenotype-genotype correlation studies. © 2019 Royan Institute (ACECR). All rights reserved.
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