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Partial Trisomy 1q21-qter and Partial Monosomy 7q21-qter Due to a Derivative Chromosome 7 in Myelodysplastic Syndrome Associated with Squamous Cell Carcinoma: Case Report

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Case Reports in Clinical Medicine 2016年第12期5卷 518-527页

作者： abdulsamad wafa Faten Moassass Thomas Liehr Abdulmunim Aljapawe Walid Al Achkar Chromosomes Laboratory Human Genetics Division Molecular Biology and Biotechnology Department Syrian Atomic Energy Commission Damascus Syria Jena University Hospital Institute of Human Genetics Jena Germany Flow-Cytometry Unit Mammalians Biology Division Molecular Biology and Biotechnology Department Syrian Atomic Energy Commission Damascus Syria

Background: Myelodysplastic syndromes (MDS) are subtypes of hematological disorders which are known to have partial bone marrow dysplasia, peripheral cytopenia, and later on an increased risk to develop acute myeloid leukemia. Chromosomal aberrations are detected in ~50% of cases of de novo MDS cases and the most common chromosomal abnormalities of this entity include complete or partial monosomy of chromosomes 5 and 7, partial deletion of 20q and 12p, trisomy 8, and 11q23 aberrations. A few primary and/or secondary MDS cases combined with other cancer have been reported. Case Presentation: We report here an adult MDS associated with squamous cell carcinoma (SCC). G-banding and array-proven multicolor banding (aMCB) revealed an unbalanced translocation der(7)t(1;7)(q21;q21), which led to 1q partial trisomy and 7q partial monosomy. Immunophenotype of this case was consistent with refractory anemia with excess of blasts (RAEB-2) according to World Health Organization (WHO) classification. Conclusions: As far as we know, this is the first adult MDS case associated with SCC and an unbalanced translocation t(1;7). Our patient received first cycle of azacitidine treatment and he showed bilateral pleural effusion as a secondary event. This toxicity is not limited to the first cycle as in previous MDS cases;our case is the first one to shown this toxicity as a secondary event of azacitidine treatment. As less than 10 cytogenetcially comparable cases without SCC were reported before in male MDS, we carefully conclude that this cytogenetic aberration may be a hint on a new gender associated MDS subgroup.

关键词： Myelodysplastic Syndrome (MDS) Cytogenetics Fluorescence in Situ Hybridization (FISH) Squamous Cell Carcinoma (SCC) Prognostic Factors

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染色体异常致反复和后代5p12-15.3三体:一对叙利亚夫妇报道及文献复习（英文）

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中华男科学杂志 2015年第3期21卷 219-224页

作者： Walid AL-ACHKAR Faten Moassass Ayman Al-Ablog Thomas Liehr Xiaobo Fan abdulsamad wafa Department of Molecular Biology and Biotechnology Human Genetics DivisionAtomic Energy Commission Jena University Hospital Institute of Human Genetics

在本研究中,我们介绍一叙利亚夫妻发生孕早期反复流产、胎儿畸形和/或新生儿死亡。经检查,父亲表型正常,有一个平衡的染色体易位t(5;15),在无精子症因子(AZF)b座位s Y125基因发生了微缺失而且其伴有MTHFRC677T纯合子基因多态性。值得注... 详细信息

在本研究中,我们介绍一叙利亚夫妻发生孕早期反复流产、胎儿畸形和/或新生儿死亡。经检查,父亲表型正常,有一个平衡的染色体易位t(5;15),在无精子症因子(AZF)b座位s Y125基因发生了微缺失而且其伴有MTHFRC677T纯合子基因多态性。值得注意的是,他的妻子则伴有MTHFRA1298C纯合子基因多态性。这对夫妻经历了两次流产,有2个夭折的孩子均为严重畸形,为5号染色体短臂部分三体。夫妻结婚10年后没有任何存活后代。

关键词：反复流产染色体异常胎儿畸形死胎 5p三体 Y染色体缺失荧光原位杂交亚甲基四氢叶酸还原酶

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A novel cytogenetic abnormality r(7)(::p11.2->q36.3::) in a Philadelphia-positive chronic myeloid leukemia case

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Case Reports in Clinical Medicine 2013年第9期2卷 517-520页

作者： Walid Al Achkar abdulsamad wafa Abdulmunim Aljapawe Moneeb Abdullah Kassem Othman Thomas Liehr Human Genetics Division Molecular Biology and Biotechnology Department Atomic Energy Commission Damascus Syria Jena University Hospital Institute of Human Genetics Jena Germany Mammalians Biology Division Molecular Biology and Biotechnology Department Atomic Energy Commission Damascus Syria

The so-calledPhiladelphia(Ph) chromosome is present in more than 90% of chronic myeloid leukemia (CML) cases. It results in juxtaposition of the 5' part of the BCR gene on chromosome 22 and the 3' part of the ABL1 gene on chromosome 9. An additional acquired monosomy 7 or deletion of 7q is associated with poor prognosis in a variety of myeloid disorders. Here we report a novel Ph chromosome positive CML case with a ring chromosome 7 [r(7)]. Immunophenotyping was compatible with CML, although 4.5% of total leucocytes appeared like acute myelogeneous leukemia (AML) subtype M2. The r(7) was characterized in detail by array-proven multicolor banding (aMCB), the latter being of enormous significance to characterize breakpoint regions in detail. Underlying mechanisms and prognostic are discussed, as ring chromosomes are rare cytogenetic abnormalities in hematopoietic malignancies.

关键词： Chronic Myeloid Leukemia (CML) Ring Chromosome 7 Del(7p) Fluorescence in Situ Hybridization (FISH) Reverse Transcription Polymerase Chain Reaction (RT-PCR) Array-Proven Multicolor Banding (aMCB)

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