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(a) G-banded karyotype, showing 2 abnormal chromosomes 9 (b) Enlarged image, showing abnormal chromosomes 9 inv(9)(p13q12)and inv(9)(p13q12)del(9) (p11p21) (c) R-banded metaphase (d) Enlarged image of abnormal chromosomes 9 from R-banded metaphases (e) C-banding on the same metaphase shown in 1c (f) Enlarged image of the C-banded Chromosomes 9 showing splitting of heterochromatic region.
Source publication
Pericentric inversion of chromosome 9 involving the qh region is relatively common as a constitutional genetic aberration without any apparent phenotypic consequences. However, it has not been established as an acquired abnormality in cancer. Among the three patients reported so far in the literature with acquired inv(9), only one had acute myeloid...
Citations
... Constitutional inv (9) has also been reported in patients with polycythemia vera [39], chronic myeloid leukemia [41], acute myeloid leukemia [42,43], myelodysplastic syndrome [44], solid tumors [45,46], and acute lymphocytic leukemia [47]. Our research yielded only a few reports on acquired inv (9) in patients with acute myeloid leukemia [48,49] and essential thrombocythemia [50]. In myelodysplastic syndrome, unbalanced chromosomal abnormalities coexisting with the gain or loss of chromosomal material and complex abnormalities are common in comparison with chronic myeloid leukemia and acute myeloid leukemia, which recurrently possess balanced cytogenetic abnormalities such as reciprocal translocations, inversions, and insertions [51]. ...
... The frequency of inherited inv (9) has been studied in various studies with inconsistent findings [42,43,50]. Several conflicting results have also been obtained from the evaluation of A case of schizophrenia-like psychosis inv(9)(p11;q13) prominent chronic hallucinations [103] 431 neonates 8 patients with inv(9)(p11;q13) polydactyly, club foot, microtia, deafness, asymmetric face, giant Meckel diverticulum, duodenal diaphragm, small bowel malrotation, pulmonary stenosis, cardiomyopathy, arrhythmia, and intrauterine growth restriction [7] A 27-year-old woman with primary infertility inv(9)(p11;q13) phenotypically normal [12] An underweight male newborn pericentric inversion of the heterochromatic segment of 1 chromosome 9 in diploid cells with 2 inversions in trisomic cells peculiar face with hypertelorism, mongoloid position of the eyes, narrow palpebral fissures, enophthalmos, a broad-based nose with a bulbous tip, a high-arched palate, a short mandible, dysmorphic ears with a unilateral preauricular tag, flexion position of the hands and fingers, muscular hypotonia, and severe psychomotor retardation [90] ( A 27-year-old patient 46,XY,inv(9)(p11;q13),inv(9)(p11;q13) primary infertility and oligozoospermia [33] An infertile man complementary isochromosome of 46,XY, i(9)(p10), i(9)(q10) normal sexual development and oligoasthenoteratozoospermia [26] A 2-month-old female baby 46,XX,inv(9)(p11;q13) eye and brain abnormalities as well as muscular weakness [30] A baby boy with CLS complete inversion of the secondary constriction region (qh) bushy eyebrows, a small nose with anteverted nostrils, thin lips, micrognathia, cleft palate, and shortened arms [29] A prenatally diagnosed case of an inv (9) 58 patients with ovarian carcinoma 1 patient with inv(9)(p11;q13) repeated spontaneous abortions [46] A 24-year-old Omani woman inv(9)(p13;q12) and del(9)(p21) AML with aberrant CD7 and CD9 positivity [48] 2 cases of acquired inv(9) chromosomes (9) The ultrasound findings of 6 fetuses of 30 cases with inv(9) consisted of hydramnios, anhydramnios, hydroureter, hydronephrosis, encephalocele, and prune belly syndrome, occurring singly or in combination. ...
Background
Inversion of chromosome 9 (inv[9]) is known as one of the most common structural balanced chromosomal variations. Chromosome 9 is highly susceptible to structural rearrangements, specifically to pericentric inversions. Various investigators have posited that inv(9) with different breakpoints could be the cause of several abnormal conditions in individuals, whereas others have considered it a benign variant. To our knowledge, a consensus regarding the effects of this inversion has yet to emerge.
Objective
This study aims to discuss the pathogenic/benign effects of inv(9) in all possible clinical conditions detected in the occurrence of this abnormality.
Methods
Studies on inv(9) were collected via PubMed, MalaCards, Google Scholar, and NORD, along with the search terms of inv(9), pericentric inv(9), and chromosome 9 variants. Additionally, the incidence of inv(9) and the karyotype and clinical findings of individuals reported with this variant were investigated.
Results
The collection of the studies reviewed shows that inv(9) is associated with various conditions such as congenital anomalies, growth retardation, infertility, recurrent pregnancy loss, and cancer. The clinical features associated with this variant in humans vary between growth stages. Further, there have been no shared clinical findings in a specific period.
Conclusions
Although there is no conclusive evidence for the pathogenicity of this rearrangement, prenatal genetic counseling on inv(9) and further clinical and molecular studies would be helpful in chromosome 9-related problems.
... PD is the process of ruling in or out fetal anomalies or genetic disorders, to provide expecting parents with the information and opportunity to modify pregnancy management and/or postnatal care. 1 Indications for PD include high risk situations for chromosomal abnormalities in the fetus, such as high maternal age, balanced translocation in one parent, history of previous child with a chromosomal abnormality, structural defects in one of the parent`s chromosomes (mosaicism, pericentric, inversion), fragile X syndrome, or family with a single gene disorders child (recessive, dominant or sex-linked, like metabolic inherited disorders, maple syrup urine disease, phenylketonuria, galactosemia, etc.) or diseases with ethnic background (Tay-Sachs, cystic fibrosis, thalassemia), history of recurrent spontaneous abortion, risk of neural tube defects (NTD) as well as multiple anomalies in previous newborn. [2][3][4] PD techniques include amniocentesis, chorionic villus sampling (CVS), maternal serum biochemical tests including alpha-fetoprotein (AFP), estriol and beta human chorionic gonadotropin (β-hCG), ultrasonography, embryoscopy, fetoscopy, preimplantation genetic diagnosis (PGD) and isolation of fetal trophoblast cells from maternal blood. 5 However, most of these methods are high risk. ...
Introduction: Prenatal diagnosis is testing for detection of diseases
or conditions in a fetus or embryo before it is born. Most of prenatal diagnostic (PD)
techniques are invasive and done in late stages of pregnancy. Using fetal DNA in maternal
blood for fetal sex determination in early pregnancy might help in management of X-linked
genetic diseases. This study aimed to investigate the accuracy of sex determination using
fetal DNA in maternal blood at 8-12 weeks of gestation. Methods: In this cross-sectional
study, 30 pregnant women at 8-12 weeks of gestation were enrolled. The sex-determining region
Y (SRY) gene expression with the internal control (IC) glyceraldehyde 3-phosphate
dehydrogenase (GAPDH) was investigated with quantitative real-time polymerase chain reaction
(PCR) using specific primers and probes. Results: Accuracy of sex determination with SRY gene
expression in 8-12 weeks of pregnancy were 85%, 85%, 90% and 100% respectively. Conclusion: It
seems that fetal sex determining using fetal DNA in maternal blood is a reliable method for
early stage of pregnancy.
... Contrary to the synthetic drugs, antioxidents of plant origin are not associated with many side effects and have an enormous therapeutic potential to heal many metabolic diseases. Many efforts have been made to ascertain new antioxidant and anti-diabetic properties from plants and recently several workers have reported the anti-oxidant and anti-diabetic activities occurring medicinal plants [17][18][19][20] . ...
The anti-hyperglycemic and anti-oxidant activity of leaves and bark extracts (aqueous, methanolic, chloroform and n-hexane) of Murraya koenigii was evaluated on streptozotocin induced diabetic in wistar albino rats. The leaf and bark extract was demonstrated LD50> 3 g/kg and LD 50> 3.6 g/kg respectively with low toxicity. Remarkable loss body weight retrieval (+14.37 g) was demonstrated by using Murraya koenigii leaf aqueous extract. Among all the different polarity of leaf and bark extracts, the aqueous and methanolic leaf extract at the dose levels of 300 mg/kg body weight produced a significant decrease in fasting blood glucose level by 64.16 and 60.84 % respectively with respect to initial fasting blood glucose level after 15 days of the treatment. In the oral glucose tolerance test, the aqueous and methanolic leaf extracts at the dose levels of 300 mg/kg was also effective that decreased glycemia (2.7 % and 2.1 %) at 1 h and the effect persisted unit at 2 h. (p < 0.05) after glucose loading, which revealed impaired glucose tolerance. Aqueous leaf extract demonstrated highest DPPH free radical scavenging activity at 89.32 ±1.65 than the methanolic, chloroform and n-hexane extracts 76.34 ± 1.56, 67.89 ± 1.54 and 59.56 ± 1.32 respectively at a concentration of 100 μg/mL. Beside this aqueous leaves extract also revealed highest Ferric-reducing antioxidant power assay value i.e. 76.32 ± 1.87 than the other extracts at a concentration of 100 μg/mL. For all the estimated parameters used with leaf and bark the results of the aqueous leaf extract treated groups were restored to the near normal level, there by indicating good anti-hyperglycemic activity of the leaf aqueous extract of Murraya koenigii.
... The constitutional pericentric inversion 9p11-12 and 9q13-21.1 is one of the most common balanced structural chromosomal variations known to occur in 1-4% of the normal population, and its predisposition to development of cancer and haematological disorders has been indicated. Acquired somatic form of 9p pericentric inversions with breakpoints at 9p13 and 9q12 is also reported in leukemia [16,17]. ...
Genetic alterations of the short arm of chromosome 9 are frequent in acute lymphoblastic leukemia. We performed targeted sequencing of 9p region in 35 adolescent and adult acute lymphoblastic leukemia patients and sought to investigate the sensitivity of detecting copy number alterations in comparison with array comparative genomic hybridization (aCGH), and besides, to detect novel genetic anomalies. We found a high concordance of copy number variations (CNVs) as detected by next generation sequencing (NGS) and aCGH. By both methodologies, the recurrent deletion at CDKN2A/B locus was identified, whereas NGS revealed additional, small regions of CNVs, seen more frequently in adult patients, while aCGH was better at detecting larger CNVs. Also, by NGS, we detected novel structural variations, novel SNVs and small insertion/deletion variants. Our results show that NGS, in addition to detecting mutations and other genetic aberrations, can be used to study CNVs.
... 7 The analyzed genes have been selected based on their involvement in T-ALL pathogenesis as reported by others. 4,[8][9][10][11] Primer sequences are presented in Supplementary Table 1. On the basis of the number of hypermethylated genes patients were divided into CIMP þ and CIMP À groups. ...
Leukemia is one of the leading journals in hematology and oncology. It is published monthly and covers all aspects of the research and treatment of leukemia and allied diseases. Studies of normal hemopoiesis are covered because of their comparative relevance.
... Previously, constitutional inv (9) has been reported in patients with solid tumors [12,13], ALL [16], AML [14,17], MDS [25], CML [23], and polycythemia vera (PV) [26]. Acquired inv (9) has been reported in patients with essential thrombocythemia (ET) [15] and AML [27,28], but rarely. We report, possibly for the first time, constitutional inv(9) in patients with various hematological disorders, including MM, ITP, IDA, AA, CML, megaloblastic anemia, and malignant lymphoma. ...
Constitutional pericentric inversion of chromosome 9 [inv(9)] occurs in 0.8 to 2% of the normal population and has long been considered a normal variant. It is controversial whether inv(9) is a predisposing factor for acute leukemia (AL). The effect of inv(9) on bone marrow (BM) recovery after stem cell transplantation or chemotherapy is undetermined. Between March 2001 and December 2008, the cytogenetics of 3,809 patients with suspected hematological diseases were reviewed. Of them, 586 patients were diagnosed with AL. Constitutional inv(9) was found in 55 patients with various hematological disorders, including AL and solid tumors. The proportion of inv(9) was similar in patients with AL (8/586, 1.37%) and those without (47/3223, 1.46%; p = 1.0). Of the eight patients with AL and inv(9), one refused treatment and seven had induction chemotherapy. Four of the seven patients achieved prompt hematological recovery, but the other three failed to achieve complete hematological remission. Thus constitutional inv(9) seems not to be related independently to delayed hematological recovery. One recipient of an allogeneic peripheral blood stem cell transplantation, from an unrelated donor with constitutional inv(9), also achieved prompt hematological reconstruction, further suggesting that constitutional inv(9) has no effect on hematopoietic cells. In summary, our data suggest that constitutional inv(9) is a truly random chromosomal aberration with no apparent functional effect on hematological disorders.
... The pericentric inversion of chromosome 9 is commonly considered constitutional abnormality, occurring in 1-3% of general population. Recently, however, cases of patients with hematological diseases and acquired inv(9)(p11q13)c have been reported, including newly diagnosed patient with ET [26][27][28], rising a question of its role in the pathogenesis of the disease. Because of that, we report all chromosome 9 inversion abnormalities among other identified abnormalities in Table 2, similar to a report by Gangat et al. [14]. ...
Cytogenetic abnormalities in patients with essential thrombocythemia (ET) are infrequent. Their role in survival of patients and disease transformation is not extensively studied. We describe cytogenetic abnormalities in 172 patients with ET at a single institution. At presentation nine (5.2%) patients had cytogenetic abnormality and three (1.7%) additional patients acquired them during follow-up. Survival of patients with cytogenetic changes at presentation did not differ when compared to the patients with normal karyotype. The more common were abnormalities of chromosome 9 (n = 4), 20 (n = 2), 5 (n = 2), and complex abnormalities (n = 2). Forty-one patients (23.8%) had additional cytogenetic tests performed for monitoring purposes during follow-up. Five patients (2.9%) with normal karyotype transformed to myelofibrosis (MF) without developing new cytogenetic changes at transformation. Two patients (1.2%) with normal karyotypes at presentation transformed to myelodysplastic syndrome and acute myeloid leukemia, respectively. Both acquired complex cytogenetic changes at the time of transformation. There is no rationale for repeating cytogenetic tests in ET patients on follow up, unless blood cell count changes suggest possible transformation.
