PMID- 31210441 OWN - NLM STAT- PubMed-not-MEDLINE LR - 20220408 IS - 2228-5806 (Print) IS - 2228-5814 (Electronic) IS - 2228-5806 (Linking) VI - 21 IP - 3 DP - 2019 Oct TI - Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies. PG - 337-349 AB - 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. CI - Copyright(c) by Royan Institute. All rights reserved. FAU - Mohammadzadeh, Akbar AU - Mohammadzadeh A AD - Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran. FAU - Akbaroghli, Susan AU - Akbaroghli S AD - Pediatric Neurology Research Center, Mofid Children's Hospital, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. AD - Clinical Genetics Division, Mofid Children's Hospital, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. FAU - Aghaei-Moghadam, Ehsan AU - Aghaei-Moghadam E AD - Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran. FAU - Mahdieh, Nejat AU - Mahdieh N AD - Cardiogenetic Research Laboratory, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran. FAU - Badv, Reza Shervin AU - Badv RS AD - Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran. FAU - Jamali, Payman AU - Jamali P AD - Genetic Counseling Center, Shahroud Welfare Organization, Shahroud, Iran. FAU - Kariminejad, Roxana AU - Kariminejad R AD - Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran. FAU - Chavoshzadeh, Zahra AU - Chavoshzadeh Z AD - Department of Immunology and Allergy, Mofid Children's Hospital, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. AD - Pediatric Infections Research Center, Research Institute for Children's Health, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. FAU - Ghasemi Firouzabadi, Saghar AU - Ghasemi Firouzabadi S AD - Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran. FAU - Mansour Ghanaie, Roxana AU - Mansour Ghanaie R AD - Pediatric Infections Research Center, Research Institute for Children's Health, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. FAU - Nozari, Ahoura AU - Nozari A AD - Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran. FAU - Banihashemi, Sussan AU - Banihashemi S AD - Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran. FAU - Hadipour, Fatemeh AU - Hadipour F AD - Sarem Fertility and Infertility Research Center (SAFIR), Sarem Women's Hospital, Tehran, Iran. AD - Sarem Cell Research Center (SCRC), Sarem Women's Hospital, Tehran, Iran. FAU - Hadipour, Zahra AU - Hadipour Z AD - Sarem Fertility and Infertility Research Center (SAFIR), Sarem Women's Hospital, Tehran, Iran. AD - Sarem Cell Research Center (SCRC), Sarem Women's Hospital, Tehran, Iran. FAU - Kariminejad, Ariana AU - Kariminejad A AD - Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran. FAU - Najmabadi, Hossein AU - Najmabadi H AD - Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran. AD - Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran. FAU - Shafeghati, Yousef AU - Shafeghati Y AD - Sarem Fertility and Infertility Research Center (SAFIR), Sarem Women's Hospital, Tehran, Iran. AD - Sarem Cell Research Center (SCRC), Sarem Women's Hospital, Tehran, Iran. FAU - Behjati, Farkhondeh AU - Behjati F AD - Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.Electronic Address: f_behjati@uswr.ac.ir. AD - Sarem Fertility and Infertility Research Center (SAFIR), Sarem Women's Hospital, Tehran, Iran. AD - Sarem Cell Research Center (SCRC), Sarem Women's Hospital, Tehran, Iran. LA - eng PT - Journal Article DEP - 20190615 PL - Iran TA - Cell J JT - Cell journal JID - 101566618 PMC - PMC6582423 OTO - NOTNLM OT - Array Comparative Genomic Hybridization OT - Chromosomal Abnormalities OT - Congenital Abnormalities OT - Microdeletions OT - Multiplex Ligation-Dependent Probe Amplification COIS- There is no conflict of interest in this study. EDAT- 2019/06/19 06:00 MHDA- 2019/06/19 06:01 PMCR- 2019/09/01 CRDT- 2019/06/19 06:00 PHST- 2018/05/30 00:00 [received] PHST- 2018/10/21 00:00 [accepted] PHST- 2019/06/19 06:00 [entrez] PHST- 2019/06/19 06:00 [pubmed] PHST- 2019/06/19 06:01 [medline] PHST- 2019/09/01 00:00 [pmc-release] AID - 10.22074/cellj.2019.6053 [doi] PST - ppublish SO - Cell J. 2019 Oct;21(3):337-349. doi: 10.22074/cellj.2019.6053. Epub 2019 Jun 15.