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Chromosomal breakage induced by crosslinking agents

MedGen UID:
867372
Concept ID:
C4021737
Finding
Synonyms: Chromosomal breakage induced by diepoxybutane; Chromosomal breakage induced by mitomycin C
 
HPO: HP:0003221

Definition

Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChromosomal breakage induced by crosslinking agents

Conditions with this feature

Fanconi anemia complementation group N
MedGen UID:
372133
Concept ID:
C1835817
Disease or Syndrome
Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.
Fanconi anemia complementation group J
MedGen UID:
323015
Concept ID:
C1836860
Disease or Syndrome
Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.
Fanconi anemia complementation group I
MedGen UID:
323016
Concept ID:
C1836861
Disease or Syndrome
Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.
Fanconi anemia complementation group D1
MedGen UID:
325420
Concept ID:
C1838457
Disease or Syndrome
Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.
Fanconi anemia complementation group D2
MedGen UID:
463627
Concept ID:
C3160738
Disease or Syndrome
Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.
Fanconi anemia complementation group E
MedGen UID:
463628
Concept ID:
C3160739
Disease or Syndrome
Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.
Fanconi anemia complementation group C
MedGen UID:
483324
Concept ID:
C3468041
Disease or Syndrome
Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.
Fanconi anemia complementation group A
MedGen UID:
483333
Concept ID:
C3469521
Disease or Syndrome
Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.
Fanconi anemia complementation group F
MedGen UID:
854016
Concept ID:
C3469526
Disease or Syndrome
Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.
Fanconi anemia complementation group L
MedGen UID:
854018
Concept ID:
C3469528
Disease or Syndrome
Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.
Fanconi anemia complementation group P
MedGen UID:
854020
Concept ID:
C3469542
Disease or Syndrome
Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.
Fanconi anemia complementation group T
MedGen UID:
896157
Concept ID:
C4084840
Disease or Syndrome
Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.
Fanconi anemia complementation group R
MedGen UID:
924579
Concept ID:
C4284093
Disease or Syndrome
Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.
Fanconi anemia complementation group V
MedGen UID:
934619
Concept ID:
C4310652
Disease or Syndrome
Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.
Mitochondrial complex 4 deficiency, nuclear type 16
MedGen UID:
1762514
Concept ID:
C5436714
Disease or Syndrome
Mitochondrial complex IV deficiency nuclear type 16 (MC4DN16) is an autosomal recessive metabolic disorder with highly variable manifestations. Common features include failure to thrive with poor overall growth, short stature, and microcephaly. Some patients additionally have neurologic involvement, including developmental regression with severe hypotonia, feeding difficulties, and seizures. Brain imaging in the more severely affected patients shows cerebral and cerebellar atrophy and abnormal lesions in the basal ganglia. In all cases, patient tissues show variably decreased levels and activity of mitochondrial respiratory complex IV (summary by Pillai et al., 2019). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.
Dyskeratosis congenita, autosomal recessive 8
MedGen UID:
1824030
Concept ID:
C5774257
Disease or Syndrome
Autosomal recessive dyskeratosis congenita-8 (DKCB8) is characterized by progressive bone marrow failure affecting all lineages apparent from infancy or early childhood. More variable features may include poor growth, mild developmental delay, immunodeficiency, and gastrointestinal manifestations, such as esophageal stricture or inflammatory bowel disease. Some patients may have mucocutaneous features, including oral leukoplakia, nail dystrophy, or pigmentary skin abnormalities, although these features may be absent. Unlike patients with other forms of DKC, those with DKCB8 do not have shortened telomeres, although there is evidence of telomere instability. Hematopoietic stem cell transplant may be curative (Kermasson et al., 2022). For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (127550).

Recent clinical studies

Etiology

Repczyńska A, Jułga K, Lorenc A, Skalska-Sadowska J, Wysocki M, Zaucha-Prażmo A, Drabko K, Bossowski A, Dembowska-Bagińska B, Wachowiak J, Buciński A, Haus O
Adv Clin Exp Med 2024 Apr;33(4):361-368. doi: 10.17219/acem/168825. PMID: 37540155
Pouliot GP, Degar J, Hinze L, Kochupurakkal B, Vo CD, Burns MA, Moreau L, Ganesa C, Roderick J, Peirs S, Menten B, Loh ML, Hunger SP, Silverman LB, Harris MH, Stevenson KE, Weinstock DM, Weng AP, Van Vlierberghe P, D'Andrea AD, Gutierrez A
PLoS One 2019;14(11):e0221288. Epub 2019 Nov 13 doi: 10.1371/journal.pone.0221288. PMID: 31721781Free PMC Article
Federico MB, Campodónico P, Paviolo NS, Gottifredi V
Mutat Res 2018 Mar;808:83-92. Epub 2017 Sep 14 doi: 10.1016/j.mrfmmm.2017.09.004. PMID: 29031493
Garbati MR, Hays LE, Rathbun RK, Jillette N, Chin K, Al-Dhalimy M, Agarwal A, Newell AE, Olson SB, Bagby GC Jr
J Leukoc Biol 2016 Mar;99(3):455-65. Epub 2015 Oct 2 doi: 10.1189/jlb.3A0515-201R. PMID: 26432900Free PMC Article
Tuteja N, Tuteja R
Crit Rev Biochem Mol Biol 2001;36(3):261-90. doi: 10.1080/20014091074192. PMID: 11450971

Diagnosis

Repczyńska A, Jułga K, Lorenc A, Skalska-Sadowska J, Wysocki M, Zaucha-Prażmo A, Drabko K, Bossowski A, Dembowska-Bagińska B, Wachowiak J, Buciński A, Haus O
Adv Clin Exp Med 2024 Apr;33(4):361-368. doi: 10.17219/acem/168825. PMID: 37540155
Takenaka S, Kuroda Y, Ohta S, Mizuno Y, Hiwatari M, Miyatake S, Matsumoto N, Oka A
Am J Med Genet A 2019 Jun;179(6):900-902. Epub 2019 Mar 25 doi: 10.1002/ajmg.a.61130. PMID: 30907510
Federico MB, Campodónico P, Paviolo NS, Gottifredi V
Mutat Res 2018 Mar;808:83-92. Epub 2017 Sep 14 doi: 10.1016/j.mrfmmm.2017.09.004. PMID: 29031493
Korgaonkar S, Ghosh K, Vundinti BR
Hematology 2010 Feb;15(1):58-62. doi: 10.1179/102453310X12583347009531. PMID: 20132664
Auerbach AD
Mutat Res 2009 Jul 31;668(1-2):4-10. Epub 2009 Feb 28 doi: 10.1016/j.mrfmmm.2009.01.013. PMID: 19622403Free PMC Article

Prognosis

Garbati MR, Hays LE, Rathbun RK, Jillette N, Chin K, Al-Dhalimy M, Agarwal A, Newell AE, Olson SB, Bagby GC Jr
J Leukoc Biol 2016 Mar;99(3):455-65. Epub 2015 Oct 2 doi: 10.1189/jlb.3A0515-201R. PMID: 26432900Free PMC Article
Mohseni-Meybodi A, Mozdarani H, Mozdarani S
Mutagenesis 2009 Jan;24(1):67-73. Epub 2008 Oct 3 doi: 10.1093/mutage/gen052. PMID: 18836100
Auerbach AD, Rogatko A, Schroeder-Kurth TM
Blood 1989 Feb;73(2):391-6. PMID: 2917181

Clinical prediction guides

Federico MB, Campodónico P, Paviolo NS, Gottifredi V
Mutat Res 2018 Mar;808:83-92. Epub 2017 Sep 14 doi: 10.1016/j.mrfmmm.2017.09.004. PMID: 29031493
Garbati MR, Hays LE, Rathbun RK, Jillette N, Chin K, Al-Dhalimy M, Agarwal A, Newell AE, Olson SB, Bagby GC Jr
J Leukoc Biol 2016 Mar;99(3):455-65. Epub 2015 Oct 2 doi: 10.1189/jlb.3A0515-201R. PMID: 26432900Free PMC Article
Kopic S, Eirich K, Schuster B, Hanenberg H, Varon-Mateeva R, Rittinger O, Schimpl G, Schindler D, Jones N
Acta Paediatr 2011 May;100(5):780-3. Epub 2011 Jan 12 doi: 10.1111/j.1651-2227.2010.02116.x. PMID: 21138478
Satoh T, Yamamoto K, Miura KF, Sofuni T
Cytogenet Genome Res 2004;104(1-4):289-94. doi: 10.1159/000077504. PMID: 15162053
Auerbach AD, Rogatko A, Schroeder-Kurth TM
Blood 1989 Feb;73(2):391-6. PMID: 2917181

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