Title |
A Patient with Trisomy 4p and Monosomy 10q
|
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Published in |
Archives of Iranian Medicine (AIM), July 2019
|
Pubmed ID | |
Authors |
Maryam Sobhani, Parisa Tahmasbi, Fatemeh Nasiri, Mitra Rahnama, Roxana Karimi-Nejad, Mohammad Amin Tabatabaiefar |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 1 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Practitioners (doctors, other healthcare professionals) | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 8 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Master | 2 | 25% |
Student > Ph. D. Student | 1 | 13% |
Professor | 1 | 13% |
Professor > Associate Professor | 1 | 13% |
Student > Postgraduate | 1 | 13% |
Other | 0 | 0% |
Unknown | 2 | 25% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 3 | 38% |
Nursing and Health Professions | 2 | 25% |
Chemistry | 1 | 13% |
Unknown | 2 | 25% |