Isochromosomes

Metacentric chromosomes produced during MEIOSIS or MITOSIS when the CENTROMERE splits transversely instead of longitudinally. The chromosomes produced by this abnormal division are one chromosome having the two long arms of the original chromosome, but no short arms, and the other chromosome consisting of the two short arms and no long arms. Each of these isochromosomes constitutes a simultaneous duplication and deletion.

Also Known As:

Networked: 205 relevant articles (4 outcomes, 11 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Chromosome Aberrations (Chromosome Abnormalities)
2.	Precursor Cell Lymphoblastic Leukemia-Lymphoma (Acute Lymphoblastic Leukemia)
3.	Visceral Leishmaniasis (Kala Azar)
4.	Turner Syndrome (Turner's Syndrome)
5.	Trisomy (Trisomies)

Experts

1.	Nakagawa, Takuro: 4 articles (01/2020 - 11/2008)
2.	Berman, Judith: 4 articles (10/2009 - 07/2006)
3.	Martins, Cesar: 3 articles (07/2022 - 01/2010)
4.	Artoni, Roberto Ferreira: 3 articles (11/2021 - 05/2006)
5.	Su, Jie: 3 articles (01/2020 - 12/2016)
6.	Zafar, Faria: 3 articles (01/2020 - 12/2016)
7.	Masukata, Hisao: 3 articles (01/2019 - 11/2008)
8.	Takahashi, Tatsuro S: 3 articles (01/2019 - 11/2008)
9.	Forche, Anja: 3 articles (05/2008 - 07/2006)
10.	Selmecki, Anna: 3 articles (05/2008 - 07/2006)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Isochromosomes:

1.	AntigensIBA 12/13/2013 - "Cytogenetic analysis showed characteristic karyotype of isochromosome 7. Chronic antigen stimulation due to visceral leishmaniasis may have led to an expansion of gamma delta T cells in our patient, and immunophenotypic analysis of bone marrow aspirate and characteristic karyotype helped to achieve the diagnosis. "
2.	Alemtuzumab (Campath)FDA Link 07/01/1997 - "Laboratory and clinical data suggest great similarity between Sezary cell leukaemia and T prolymphocytic leukaemia (T-PLL), namely coexpression of CD4 and CD8 (3/9 cases), identical chromosomal abnormalities in the three cases studied (isochromosome 8q plus inversion 14 or t(X;14)(q28;q11)) and a remarkable sensitivity to CAMPATH-1H (complete remission of 21 months' duration in one patient), suggesting that this entity could be considered a variant form of T-PLL. "
3.	Genetic Markers (Genetic Marker)IBA 01/01/1996 - "Thus, the results of our study and the advanced mean maternal age at delivery of patients with additional i(18p) indicate that in most if not all cases the marker chromosome originates from maternal meiosis II nondisjunction immediately followed by isochromosome formation in one of the 2 maternal chromosomes 18. " 01/01/1987 - "Immunoglobulin gene rearrangement studies and the presence of a chromosome marker (isochromosome 17q) provided the formal proof that the line has originated from the neoplastic B cells. " 05/01/1975 - "In a patient with eosinophilic leukaemia, serial chromosome studies using the Giemsa banding technique revealed a similar marker chromosome, identified as an isochromosome 17, in all bone marrow metaphases analysed. " 01/01/2020 - "Low-Level Trisomy 14 Mosaicism: A Carrier of an Isochromosome 14 and a Supernumerary Marker Chromosome 14." 01/01/2020 - "This case is de novo case, the patient's marker chromosome may be inherited from his mother, which does not rule out the influence of his mother's marker chromosome on his isochromosome 18."
4.	DNA (Deoxyribonucleic Acid)IBA 06/15/2004 - "DNA studies of mono- and pseudodicentric isochromosomes 18q." 10/04/2023 - "Twenty-seven samples from 25 individual patients were analyzed with a combination of DNA sequencing panels, genomic methylation profiling, SNP array, isochromosome (12p) [i(12p)] FISH, and immunohistochemistry. " 10/01/2019 - "Intriguingly, we show that upon transfection with a vector containing the human TLX gene (eGFP-hTLX), an isochromosome forms on the long arm of chromosome 6, thereby resulting in DNA gain of the TLX locus (6q21) and upregulation of TLX. " 01/01/2017 - "latifasciata are known to carry up to two B heterochromatic isochromosomes that are enriched in repetitive DNA and contain few intact gene sequences. " 12/15/2006 - "We also report the detection of a previously unsuspected case of an isochromosome 12p (associated with Pallister-Killian syndrome) by array CGH using genomic DNA extracted from peripheral blood. "
5.	AutoantibodiesIBA 08/01/2001 - "However, 83% of women with an X-isochromosome had positive thyroid autoantibodies compared with 33% of women with other karyotypes (P < 0.0001). " 01/01/1995 - "Simultaneous presence of both autoantibodies was significantly more frequent in group 1 (45, X) and group 4 (isochromosome X of the long arm) than in group 3 (mosaicism) (p = 0.04 and p < 0.002, respectively) and significantly more frequent in group 4 than in group 1 (p < 0.05). " 01/01/1969 - "Diabetes and hypothyroidism with thyroid autoantibodies in a patient with a long arm x-isochromosome." 01/01/2011 - "Clinical studies suggest that the thyroid autoantibodies and/or hypothyroidism are not present in Turner's syndrome (TS) patients before the age of 8 years and are more frequent in patients with the X isochromosome. "
6.	Bromodeoxyuridine (BrdU)IBA 01/01/1984 - "High resolution chromosome analysis and bromodeoxyuridine (BrdUrd) incorporation have been applied to study patterns of chromosomal replication (inactivation) in two cases of unbalanced X-autosome translocations, seven cases of X and Y chromosome rings or fragments, and five cases of dicentric isochromosomes (Xq). " 11/01/2008 - "Preferential inactivation of Xq isochromosome was demonstrated by bromodeoxyuridine replication analysis and transcriptional silencing by DNA methylation at the HUMARA locus. " 07/12/1978 - "BUdR incorporation revealed the isochromosome X to be late replicating."
7.	Hormones (Hormone)IBA 01/01/1987 - "Hormone study in a case of Klinefelter syndrome with an isochromosome Xq."
8.	Fluorescent Dyes (Fluorescent Probes)IBA 09/01/2004 - "Further studies using subtelomeric fluorescent probes confirmed the presence of an isochromosome for the long arm of chromosome 16 and showed that the acentric marker chromosome derived from the short arm of chromosome 16 leading to a trisomy for the long arm of chromosome 16. "
9.	Adrenal Cortex Hormones (Corticosteroids)IBA 12/01/2023 - "The bone marrow aspirate revealed immature lymphoid cells and a hemophagocyte figure, fulfilling the criteria for hemophagocytic syndrome, starting corticosteroid therapy at a dose of 1mg/Kg. Subsequently, the existence of an intrasinusoidal CD3 + CD5- lymphoid infiltrate and a FISH study with isochromosome 7q was reported, a characteristic pattern of hepatosplenic T-cell lymphoma (HSTCL). "
10.	ChromatinIBA 01/01/2020 - "Here the organization of chromatin at a deleted X chromosome, an Xq isochromosome, and two isodicentric chromosomes were examined. " 08/01/2005 - "In turn, these bridges may trigger at least three types of chromosomes mutation: (1) structural rearrangements of chromosomes through extensive chromatin fragmentation beyond the centromeric sequences, typically leading to the formation of isochromosomes and whole-arm translocations, (2) loss of whole chromosomes through mechanical detachment from the mitotic spindle machinery, and (3) failure of cytokinesis, leading to polyploidisation and supernumerary centrosomes, which may in turn orchestrate multipolar spindle configurations at a subsequent mitosis. " 05/01/1998 - "Further, we observed an increased number of abnormal cells with pulverised chromosomes, decondensed chromatin, isochromosomes and hyperploidy in CHO9 and EM-C11 cell lines at all doses of SA." 10/29/2020 - "The most frequent chromosomal aberrations associated with HSTCL are isochromosome 7q and trisomy 8, and most cases harbor mutations in genes involved in chromatin modification or the JAK/STAT pathway. " 06/22/1964 - "[THE CHROMATIN PICTURE IN A CASE OF TURNER'S SYNDROME WITH X-ISOCHROMOSOMES]."

Therapies and Procedures

1.	Therapeutics 06/01/2006 - "The literature on t-MDS/t-AML after APL therapy and on isochromosome 1q is reviewed." 11/01/2006 - "This unusual presentation and early remission achieved by induction therapy in this patient may support the literature that isochromosome 9q has a favourable outcome in childhood ALL." 10/29/2021 - "X-monosomy or isochromosome determined a poorer response during the second and third year of rhGH therapy. " 01/01/2015 - "The poor response of this patient to traditional chemotherapy like ATRA and novel therapy like arsenic trioxide (ATO) suggests that early auto-hematological stem cell transplantation may be the choice of APL with isochromosome 17 especially with cryptic t(15;17) on i(17q). " 02/01/1997 - "Isochromosome for derivative 17q in acute promyelocytic leukemia: evidence for two copies of PML-RARA and favorable response to all-trans-retinoic acid therapy."
2.	Drug Therapy (Chemotherapy) 06/01/2021 - "The child, patient 1 with unreported isochromosome (partial 11q isochromosome), accompanied with t(1;11) translocation, initially achieved remission after receiving chemotherapy. " 01/01/2015 - "The poor response of this patient to traditional chemotherapy like ATRA and novel therapy like arsenic trioxide (ATO) suggests that early auto-hematological stem cell transplantation may be the choice of APL with isochromosome 17 especially with cryptic t(15;17) on i(17q). " 12/01/2015 - "Forty-four patients experienced disease progression from chronic or accelerated phase, and 7 cases presented as CML-BP. Thirteen patients (25.5%) had extramedullary involvement at diagnosis, and 71% were myeloid BP. Clonal evolution was identified in 53% of the cases, and the abnormalities most frequently observed were isochromosome (17q), double Philadelphia chromosome, and trisomy 8. Forty-five patients received treatment: 60% chemotherapy (CT) alone and 40% CT plus tyrosine kinase inhibitors (TKI) or TKI alone; 42% of them experienced CHR. "
3.	Aftercare (After-Treatment) 08/06/2012 - "Case report of isochromosome 17q in acute myeloid leukemia with myelodysplasia-related changes after treatment with a hypomethylating agent." 12/01/2010 - "Myelodysplastic syndrome with isochromosome 5p and trisomy 8 after treatment of a multiple myeloma." 06/01/2006 - "Isochromosome 1q in a myelodysplastic syndrome after treatment for acute promyelocytic leukemia."
4.	Crowns (Crown, Dental) 04/01/2012 - "We conclude that the isochromosome group deviates most from other karyotypes and controls, exhibiting the smallest dental crown width, while individuals with 45,X/46,XX mosaicism seemed to have a less affected crown width. " 04/01/2012 - "Turner syndrome isochromosome karyotype correlates with decreased dental crown width." 01/01/2012 - "The isochromosome TS group exhibited the smallest dental crown width for several teeth, while 45,X/46,XX hade the largest dental crown with for some teeth and fewer teeth than both 45,X and isochromosomes that differed from controls. "
5.	Stem Cell Transplantation 01/01/2015 - "The poor response of this patient to traditional chemotherapy like ATRA and novel therapy like arsenic trioxide (ATO) suggests that early auto-hematological stem cell transplantation may be the choice of APL with isochromosome 17 especially with cryptic t(15;17) on i(17q). "