Publications by authors named "Parisa Tahmasbi"

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A Patient with Trisomy 4p and Monosomy 10q

Arch Iran Med 2019 07 1;22(7):414-417. Epub 2019 Jul 1.

Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.

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.
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July 2019