Title of article :
A Patient with Trisomy 4p and Monosomy 10q
Author/Authors :
Sobhani, Maryam Iranian Blood Transfusion Research Center - High Institute for Research and Education in Transfusion Medicine, Tehran , Tahmasebi, Parisa Department of Biology - Faculty of Sciences - Ilam University, Ilam , Nasiri, Fatemeh Iranian Blood Transfusion Research Center - High Institute for Research and Education in Transfusion Medicine, Tehran , Rahnama, Mitra Iranian Blood Transfusion Research Center - High Institute for Research and Education in Transfusion Medicine, Tehran , Karimi-Nejad, Roxana Kariminejad & Najmabadi Pathology and Genetics Center, Tehran , Tabatabaiefar, Mohammad Amin Department of Genetics and Molecular Biology - School of Medicine - Isfahan University of Medical Sciences, Isfahan
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.
Keywords :
Array CGH , Dysmorphic features , Intellectual disability , Monosomy 10q26.3 , Trisomy 4p16.3 , Unbalanced chromosome translocations
Journal title :
Astroparticle Physics
