Differential diagnosis of Fanconi anemia by nitrogen mustard and diepoxybutane
Fanconi anemia (FA) is an autosomal recessive inherited disorder which is associated with a variety of congenital anomalies. These include morphometric abnormalities involving mainly the head and face, skeletal malformations particularly of the radial ray, growth retardation, abnormal skin pigmentat...
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| Veröffentlicht in: | Annals of hematology 2003-04, Vol.82 (4), p.223-227 |
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| creator | DEVIREN, A YALMAN, N HACIHANEFIOGLU, S |
| description | Fanconi anemia (FA) is an autosomal recessive inherited disorder which is associated with a variety of congenital anomalies. These include morphometric abnormalities involving mainly the head and face, skeletal malformations particularly of the radial ray, growth retardation, abnormal skin pigmentation, deafness, and renal, ocular, genital, and cardiac defects. The cardinal clinical feature is a severe progressive pancytopenia. The overall aim of our study was to compare two different alkylating agents that would permit rapid and unequivocal detection of FA. A total of 271 patients underwent nitrogen mustard (NTM) and diepoxybutane (DEB) tests in our laboratory; baseline chromosomal breakage was studied for all of them. After the results of the chromosomal breakage studies, 72 patients were diagnosed as affected and 136 patients as unaffected by FA. We also studied 63 family members of FA patients. According to our study, NTM seems more specific to identify chromosomal breakages in FA parents than DEB. |
| doi_str_mv | 10.1007/s00277-003-0614-4 |
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These include morphometric abnormalities involving mainly the head and face, skeletal malformations particularly of the radial ray, growth retardation, abnormal skin pigmentation, deafness, and renal, ocular, genital, and cardiac defects. The cardinal clinical feature is a severe progressive pancytopenia. The overall aim of our study was to compare two different alkylating agents that would permit rapid and unequivocal detection of FA. A total of 271 patients underwent nitrogen mustard (NTM) and diepoxybutane (DEB) tests in our laboratory; baseline chromosomal breakage was studied for all of them. After the results of the chromosomal breakage studies, 72 patients were diagnosed as affected and 136 patients as unaffected by FA. We also studied 63 family members of FA patients. 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Hemoglobinopathies ; Biological and medical sciences ; Chromosome Breakage ; Diagnosis, Differential ; Diseases of red blood cells ; Epoxy Compounds ; Fanconi Anemia - diagnosis ; Fanconi Anemia - genetics ; Hematologic and hematopoietic diseases ; Humans ; Lymphocytes - drug effects ; Mechlorethamine ; Medical sciences</subject><ispartof>Annals of hematology, 2003-04, Vol.82 (4), p.223-227</ispartof><rights>2003 INIST-CNRS</rights><rights>Springer-Verlag 2003</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c354t-48224f71a349aca91b40c841b3ec0246740b84c97a8424ad6ef00176c726d19d3</citedby><cites>FETCH-LOGICAL-c354t-48224f71a349aca91b40c841b3ec0246740b84c97a8424ad6ef00176c726d19d3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=14745797$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12707724$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>DEVIREN, A</creatorcontrib><creatorcontrib>YALMAN, N</creatorcontrib><creatorcontrib>HACIHANEFIOGLU, S</creatorcontrib><title>Differential diagnosis of Fanconi anemia by nitrogen mustard and diepoxybutane</title><title>Annals of hematology</title><addtitle>Ann Hematol</addtitle><description>Fanconi anemia (FA) is an autosomal recessive inherited disorder which is associated with a variety of congenital anomalies. These include morphometric abnormalities involving mainly the head and face, skeletal malformations particularly of the radial ray, growth retardation, abnormal skin pigmentation, deafness, and renal, ocular, genital, and cardiac defects. The cardinal clinical feature is a severe progressive pancytopenia. The overall aim of our study was to compare two different alkylating agents that would permit rapid and unequivocal detection of FA. A total of 271 patients underwent nitrogen mustard (NTM) and diepoxybutane (DEB) tests in our laboratory; baseline chromosomal breakage was studied for all of them. After the results of the chromosomal breakage studies, 72 patients were diagnosed as affected and 136 patients as unaffected by FA. We also studied 63 family members of FA patients. According to our study, NTM seems more specific to identify chromosomal breakages in FA parents than DEB.</description><subject>Alkylating Agents - therapeutic use</subject><subject>Anemias. Hemoglobinopathies</subject><subject>Biological and medical sciences</subject><subject>Chromosome Breakage</subject><subject>Diagnosis, Differential</subject><subject>Diseases of red blood cells</subject><subject>Epoxy Compounds</subject><subject>Fanconi Anemia - diagnosis</subject><subject>Fanconi Anemia - genetics</subject><subject>Hematologic and hematopoietic diseases</subject><subject>Humans</subject><subject>Lymphocytes - drug effects</subject><subject>Mechlorethamine</subject><subject>Medical sciences</subject><issn>0939-5555</issn><issn>1432-0584</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2003</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNpFkMFOwzAMhiMEYmPwAFxQhcSx4CRu0x7RYIA0wQXOUZomU6a1GUkrsbcn0ybNFx_8_bb1EXJL4ZECiKcIwITIAXgOJcUcz8iUImc5FBWekynUvM6LVBNyFeMagLIK2SWZUCZACIZT8vnirDXB9INTm6x1atX76GLmbbZQvfa9y1RvOqeyZpf1bgh-ZfqsG-OgQptGbcqYrf_bNeOQwGtyYdUmmptjn5Gfxev3_D1ffr19zJ-XueYFDjlWjKEVVHGslVY1bRB0hbThRgPDUiA0FepaqPQvqrY0Nj0vSi1Y2dK65TNyf9i7Df53NHGQaz-GPp2UgnNINkpIED1AOvgYg7FyG1ynwk5SkHuB8iBQJoFyL1BiytwdF49NZ9pT4mgsAQ9HQEWtNjYkSy6eOBRYiFrwf-Ikd2c</recordid><startdate>20030401</startdate><enddate>20030401</enddate><creator>DEVIREN, A</creator><creator>YALMAN, N</creator><creator>HACIHANEFIOGLU, S</creator><general>Springer</general><general>Springer Nature B.V</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7RV</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>KB0</scope><scope>M0S</scope><scope>M1P</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope></search><sort><creationdate>20030401</creationdate><title>Differential diagnosis of Fanconi anemia by nitrogen mustard and diepoxybutane</title><author>DEVIREN, A ; YALMAN, N ; HACIHANEFIOGLU, S</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c354t-48224f71a349aca91b40c841b3ec0246740b84c97a8424ad6ef00176c726d19d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2003</creationdate><topic>Alkylating Agents - therapeutic use</topic><topic>Anemias. Hemoglobinopathies</topic><topic>Biological and medical sciences</topic><topic>Chromosome Breakage</topic><topic>Diagnosis, Differential</topic><topic>Diseases of red blood cells</topic><topic>Epoxy Compounds</topic><topic>Fanconi Anemia - diagnosis</topic><topic>Fanconi Anemia - genetics</topic><topic>Hematologic and hematopoietic diseases</topic><topic>Humans</topic><topic>Lymphocytes - drug effects</topic><topic>Mechlorethamine</topic><topic>Medical sciences</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>DEVIREN, A</creatorcontrib><creatorcontrib>YALMAN, N</creatorcontrib><creatorcontrib>HACIHANEFIOGLU, S</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Nursing & Allied Health Database</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>PML(ProQuest Medical Library)</collection><collection>Nursing & Allied Health Premium</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><jtitle>Annals of hematology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>DEVIREN, A</au><au>YALMAN, N</au><au>HACIHANEFIOGLU, S</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Differential diagnosis of Fanconi anemia by nitrogen mustard and diepoxybutane</atitle><jtitle>Annals of hematology</jtitle><addtitle>Ann Hematol</addtitle><date>2003-04-01</date><risdate>2003</risdate><volume>82</volume><issue>4</issue><spage>223</spage><epage>227</epage><pages>223-227</pages><issn>0939-5555</issn><eissn>1432-0584</eissn><abstract>Fanconi anemia (FA) is an autosomal recessive inherited disorder which is associated with a variety of congenital anomalies. These include morphometric abnormalities involving mainly the head and face, skeletal malformations particularly of the radial ray, growth retardation, abnormal skin pigmentation, deafness, and renal, ocular, genital, and cardiac defects. The cardinal clinical feature is a severe progressive pancytopenia. The overall aim of our study was to compare two different alkylating agents that would permit rapid and unequivocal detection of FA. A total of 271 patients underwent nitrogen mustard (NTM) and diepoxybutane (DEB) tests in our laboratory; baseline chromosomal breakage was studied for all of them. After the results of the chromosomal breakage studies, 72 patients were diagnosed as affected and 136 patients as unaffected by FA. We also studied 63 family members of FA patients. 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| subjects | Alkylating Agents - therapeutic use Anemias. Hemoglobinopathies Biological and medical sciences Chromosome Breakage Diagnosis, Differential Diseases of red blood cells Epoxy Compounds Fanconi Anemia - diagnosis Fanconi Anemia - genetics Hematologic and hematopoietic diseases Humans Lymphocytes - drug effects Mechlorethamine Medical sciences |
| title | Differential diagnosis of Fanconi anemia by nitrogen mustard and diepoxybutane |
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