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The First Report of a Patient With Trisomy 4P and Monosomy 10Q Pubmed



Sobhani M1 ; Tahmasebi P2 ; Nasiri F1 ; Rahnama M1 ; Kariminejad R3 ; Tabatabaiefar MA4, 5
Authors
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Authors Affiliations
  1. 1. Iranian Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Tehran, Iran
  2. 2. Department of Biology, Faculty of Sciences, Ilam University, Ilam, Iran
  3. 3. Kariminejad & Najmabadi Pathology and Genetics Center, Tehran, Iran
  4. 4. Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
  5. 5. Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Noncommunicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran

Source: Archives of Iranian Medicine Published:2019


Abstract

Translocations are the most common structural abnormality in the human genome. Carriers of balanced chromosome rearrangements exhibit increased risk of abortion or a chromosomally-unbalanced child. The present study was carried out in 2017 at the Iranian Blood Transfusion Research Center. This study reported a rare chromosomal disorder with 4p duplication and 10q distal deletion syndrome which is associated with various complications at birth. Defects included the following characteristics: Dysmorphic facial characteristic, hand or foot anomalies, growth retardation, developmental delay, strabismus, heart defects and renal anomalies. Cytogenetic analysis and array CGH were performed and, for the first time, we reported a patient with trisomy 4p16.3p12 and monosomy 10q26.3. The patient was found to have: Arr 4p16.3p12 (37,152–45,490,207) x3, 10q26.3 (134,872,562–135,434,149) x1 genomic imbalances. © 2019 The Author(s).
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