• Arch Iran Med · Jul 2019

    Case Reports

    A Patient with Trisomy 4p and Monosomy 10q

    • Maryam Sobhani, Parisa Tahmasbi, Fatemeh Nasiri, Mitra Rahnama, Roxana Karimi-Nejad, and Mohammad Amin Tabatabaiefar.
    • Iranian Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Tehran, Iran.
    • Arch Iran Med. 2019 Jul 1; 22 (7): 414-417.

    AbstractTranslocations 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). This is an open-access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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