Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro‐oculo‐facio‐skeletal syndrome

Ali, Abir Ben Haj; Amouri, Ahlem; Sayeb, Marwa; Makni, S.; Hammami, Wajih; Naouali, Chokri; Dallali, Hamza; Romdhane, Lilia; Bashamboo, Anu; McElreavey, Kenneth; Abdelhak, Sonia; Messaoud, Olfa

doi:10.1002/mgg3.694

Cited by 5 publications

(4 citation statements)

References 62 publications

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“…As a result, siblings are frequently affected by the disease. 23 As in other types of hereditary anemia, diagnosis of FA and detecting its associated mutations is usually late, and patients are referred to HSCT at older ages. FA is the third indication of allogeneic-HSCT for nonmalignant hematological disorders in Egypt after hemoglobinopathies and idiopathic aplastic anemia.…”

Section: E Hepatitismentioning

confidence: 99%

Hematopoietic Stem Cell Transplantation in Egypt Challenges and Solutions

Mahmoud

Fathy²,

Elhaddad

et al. 2020

Mediterr J Hematol Infect Dis

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Hematopoietic stem cell transplantation (HSCT) is now an established treatment modality with definitive indications for many hematological disorders. However, this line of treatment requires tremendous resources, and it becomes increasingly difficult for transplanters practicing in the developing world to reconcile the difference between what is possible and what is available. On the basis of 30 years of experience and more than 4250 transplants , this article will focus on the challenges faced our HSCT program and how they were solved. The HSCT program in Egypt started in 1989 on a narrow scale and since that time we faced many challenges.In 1997, the transplant rate increased dramatically with the opening of many HSCT units distributed allover Egypt. Our team is registered in the Center for International Blood and Marrow Transplant Research ,and the number of transplants performed till December 2019 exceeded 4000 cases (60% allogeneic and 40% autologous).

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Section: E Hepatitismentioning

confidence: 99%

Hematopoietic Stem Cell Transplantation in Egypt Challenges and Solutions

Mahmoud

Fathy²,

Elhaddad

et al. 2020

Mediterr J Hematol Infect Dis

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“…Numerous cytogenetic hallmarks of oncohaematologic diseases were discovered and applied since then. Additionally, non-neoplastic conditions also bene t from this type of analysis in light of diagnosis, monitoring, and therapeutic approach [4][5][6].…”

Section: Introductionmentioning

confidence: 99%

Cytogenetic Analysis of Patients with Hematological Malignancies

et al. 2023

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Cytogenetic analysis has been a part of the routine assessment of patients with haematological malignancies for several decades. We aim to summarize and assess the activity and performance of the Cytogenetic sector of the Laboratory of Medical Genetics -Varna, in regards to conventional cytogenetic analysis of bone marrow samples from patients with various haematological diagnoses. Another purpose is to evaluate the tendencies noticed over a period of eleven years in order to draw conclusions and share our experience.We performed retrospective analysis on all bone-marrow-derived samples in our centre during the period 2010-2020. We evaluated 2,653 results in total from patients of age 0-93 years. Samples were stained with the G-banding technique in accordance with the current European recommendations and the International System for Human Cytogenomic Nomenclature. A statistical analysis of tendencies over time was performed with the use of GraphPad Prism (v. 8.3.0).Haematological malignancy was the most frequent indication (90.9%) with predominance of acute myeloid leukaemia, myelodysplastic syndrome, acute lymphoid leukaemia, chronic myeloid leukaemia, and multiple myeloma. Analysis was successful in 2,215 (83.5%) -from those normal karyotype was found in 1492 (67.4%), and pathology -in 723 (32.6%). Regarding the latter, most common were complex karyotype (29.9%), Philadelphian chromosome (21%), trisomy 8 (6.1%) and deletion of the long arm of chromosome 5 (4.4%).The method holds a great in uence over the evaluation of haematological malignancies and thus it remains an essential part of standard work-up of these diseases. The scienti c society recognizes the disadvantages of cytogenetic analysis; as our own experience also con rms, an additional genetic method of greater resolution capacity is needed.

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Section: Introductionmentioning

confidence: 99%

Cytogenetic analysis of patients with hematological malignancies

Yahya

Miteva

Micheva

et al. 2022

Preprint

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Cytogenetic analysis has been a part of the routine assessment of patients with haematological malignancies for several decades. We aim to summarize and assess the activity and performance of the Cytogenetic sector of the Laboratory of Medical Genetics – Varna, in regards to conventional cytogenetic analysis of bone marrow samples from patients with various haematological diagnoses. Another purpose is to evaluate the tendencies noticed over a period of eleven years in order to draw conclusions and share our experience.We performed retrospective analysis on all bone-marrow-derived samples in our centre during the period 2010-2020. We evaluated 2,653 results in total from patients of age 0-93 years. Samples were stained with the G-banding technique in accordance with the current European recommendations and the International System for Human Cytogenomic Nomenclature. A statistical analysis of tendencies over time was performed with the use of GraphPad Prism (v. 8.3.0).Haematological malignancy was the most frequent indication (90.9%) with predominance of acute myeloid leukaemia, myelodysplastic syndrome, acute lymphoid leukaemia, chronic myeloid leukaemia, and multiple myeloma. Analysis was successful in 2,215 (83.5%) - from those normal karyotype was found in 1492 (67.4%), and pathology - in 723 (32.6%). Regarding the latter, most common were complex karyotype (29.9%), Philadelphian chromosome (21%), trisomy 8 (6.1%) and deletion of the long arm of chromosome 5 (4.4%).The method holds a great influence over the evaluation of haematological malignancies and thus it remains an essential part of standard work-up of these diseases. The scientific society recognizes the disadvantages of cytogenetic analysis; as our own experience also confirms, an additional genetic method of greater resolution capacity is needed.

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Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro‐oculo‐facio‐skeletal syndrome

Cited by 5 publications

References 62 publications

Hematopoietic Stem Cell Transplantation in Egypt Challenges and Solutions

Hematopoietic Stem Cell Transplantation in Egypt Challenges and Solutions

Cytogenetic Analysis of Patients with Hematological Malignancies

Cytogenetic analysis of patients with hematological malignancies

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