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Abstract Objective This study aims to describe the behavior of chromosomopathy screenings in euploid fetuses. Methods This is a prospective descriptive study with 566 patients at 11 to 14 weeks of gestation. The associations between ultrasound scans and serological variables were studied. For the quantitative variables we used the Spearman test; for the qualitative with quantitative variables the of Mann-Whitney U-test; and for qualitative variables, the X2 test was applied. Significance was set at p ≤ 0.05. Results We have found that gestational age has correlation with ductus venosus, nuchal translucency, free fraction of β subunit of human chorionic gonadotropin, pregnancy-associated plasma protein-A and placental growth factor; there is also a correlation between history of miscarriages and nasal bone. Furthermore, we correlated body mass index with nuchal translucency, free fraction of β subunit of human chorionic gonadotropin, and pregnancy-associated plasma protein-A. Maternal age was associated with free fraction of β subunit of human chorionic gonadotropin and pregnancy-associated plasma protein-A. Conclusion Our study demonstrates for the first time the behavior of the biochemical and ultrasonographic markers of chromosomopathy screenings during the first trimester in euploid fetuses in Colombia. Our information is consistent with international reference values. Moreover, we have shown the correlation of different variables with maternal characteristics to determine the variables that could help with development of a screening process during the first trimester with high detection rates.
Resumo Objetivo Este estudo tem como objetivo descrever o comportamento do rastreamento de cromossomopatias em fetos euploides. Métodos Trata-se de um estudo prospectivo descritivo com 566 pacientes, entre 11 e 14 semanas de gestação. A associação entre a ultrassonografia e as variáveis sorológicas foi estudada. Para as variáveis quantitativas foi utilizado o teste de Spearman; para as qualitativas com variáveis quantitativas foi utilizado o teste U de Mann-Whitney e para as variáveis qualitativas foi aplicado o teste X2. A significância foi fixada em p ≤ 0,05. Resultados Constatou-se que a idade gestacional tem correlação com o ducto venoso, translucência nucal, fração livre da subunidade β da gonadotrofina coriônica humana, proteína plasmática A associada à gravidez e fator de crescimento placentário; há também correlação entre a história de abortos e o osso nasal. Além disso, correlacionamos o índice de massa corporal com translucência nucal, fração livre da subunidade β da gonadotrofina coriônica humana e proteína plasmática A associada à gravidez. A idade materna foi relacionada com fração livre da subunidade β da gonadotrofina coriônica humana e proteína plasmática A associada à gravidez. Conclusão Nosso estudo demonstra pela primeira vez o comportamento dos marcadores bioquímicos e ultrassonográficos de triagem de cromossomas durante o primeiro trimestre em fetos euploides na Colômbia. Nossa informação é consistente com a referência de valores internacionais. Além disso, mostram-se as relações das diferentes variáveis com as características maternas para determinar as variáveis capazes de ajudar no desenvolvimento de um processo de rastreamento durante o primeiro trimestre com alta taxa de detecção.
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Humans , Female , Pregnancy , Genetic Markers , Mass Screening , Chromosome AberrationsABSTRACT
Background: Nephroblastoma, or Wilms’ tumor, is an embryonal tumor that develops from remnants of the immature kidney. It is the most common renal tumor of childhood. The aim is to analyze the long term outcome in Wilms’ tumor in perplex situations as double moiety and to correlate with multiple organ defects.Methods: It is a combined perspective and retrospective study that pediatric urology outpatient department (OPD) at the Institute of Child Health and Hospital for Children, Madras Medical College, Chennai. The study included patients with Wilms, who attended the pediatric surgery during the ten years, from March 2008 to February 2011. The patients were subjected to detailed clinical examination and relevant investigations were performed.Results: Among patients with stage I–II fumarate hydratase (FH) tumors, the relative risk (RR) of relapse and death were increased for loss of heterozygosity (LOH) 1p only (RR=2.2 for relapse; RR=4.0 for death), for LOH 16q only (RR=1.9 and RR=1.4), and LOH for both regions (RR=2.9 and RR=4.3) in comparison with patients lacking LOH at either locus.Conclusions: Stage I and II have a good prognosis. Stage III and IV need close surveillance since they have a high rate of recurrence. Stage V has a bad prognosis. Stage IV Wilms need lung irradiation. Neoadjuvant chemotherapy reduces tumor spillage in stage III and IV.
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Aim: The present study was conducted to investigate the genotoxic effect of UV-B radiation on morphological, biochemical and cytological parameters of Cuminum cyminum. Methodology: The germinated roots of cumin were exposed to UV-B radiation at different intervals viz., 20 min 40 min and 60 min, respectively, and some treated seeds were sown on pots for morphological and biochemical observation. Results: Chromosomal studies divulged that UV-B radiation has substantial impact on Active Mitotic Index (AMI %). On increasing UV-B radiation dose, the chromosomal aberration rate elevated, thus AMI % moderately decreased and Total Abnormality percentage (TAB %) gradually increased. Different types of chromosomal abnormalities were ascertained, among which scattering was more prominent. The morphological observation showed that survival percentage and plant height decreased at elevated dose of UV-B. Biochemical results indicated that chlorophyll a, chlorophyll b and carotenoid contents decreased as compared to control, but proline content showed significant increment at higher doses of UV-B.Interpretation: The observation elucidates that UV-B causes chromosomal aberrations during cell division and acts as a potent genotoxic agents for roots. Thus, it can be concluded from the above experiment that UV-B rays promote plant growth at low doses but at the higher doses, it subsequently hinders plant growth by damaging important constituents of plant cell.
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Objective@#To explore the correlation between fetal nuchal fold (NF) thickening and fetal chromosomal abnormality.@*Methods@#In total 919 pregnant women undergoing ultrasound examination were selected for interventional prenatal diagnosis in order to detect fetal chromosomal abnormality.@*Results@#The detection rate of chromosomal abnormality has significantly increased with NF thickness, advanced maternal age, presence of other ultrasound abnormalities (P<0.05). Trisomy 21 was the most common abnormality, and there was a prepondance for male fetuses.@*Conclusion@#Increased NF thickness is strongly associated with the risk of fetal chromosomal abnormalities, advanced maternal age and presence of additional ultrasound abnormalities.
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Objective To explore the relationship between chromosomal abnormalities and diseases in children by analyzing chromosome karyotypes. Methods The chromosome karyotype analysis of peripheral lymphocytes in 5 329 children was performed. Results In all, abnormal karyotype were found in 1 723 cases (32.33％) , in which the numerical chromosome abnormalities were detected in 1 539 (89.32％) , following by 125 cases of structural chromosome abnormalities (7.25％) , 53 cases of sex reverse syndrome (3.08％) , and 6 cases of true hermaphroditism (0.35％). The chromosome polymorphism were detected in 228 cases (4.28％). Conclusions The numerical chromosome abnormalities is most frequent chromosomal aberration and is one of the important causes that result in mental retardation, growth delay and disorders of sex development in children.
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Objective: To investigate the correlation between increased nuchal translucency (NT) thickness and fetal chromosomal abnormalities, severe structure anomalies and other abnormalities, and its value in assessment of fetal prognosis. Methods: Five hundred and eighty-three singleton fetuses with NT ≥ 2.5 mm in the first trimester (11-13+6 week) were retrospectively analyzed, of which 252 had invasive prenatal test for fetal chromosome and genetic tests. They were divided into 5 groups according to the NT thickness, 2.5 ~ 2.9 mm, 3.0 ~ 3.4 mm, 3.5 ~ 4.4 mm, and ≥ 4.5 mm as 1st to 4th group, and cystic hygroma as 5th group. The incidences among groups were analyzed by Cochran-Armitage Trend test. Fisher's exact test was used to compare diversities of NT thickness among the major chromosomal abnormalities. Results: Among the 583 singleton fetuses, 59 were diagnosed as chromosomal abnormalities (23.4%, 59/252), 38 with structure anomalies (6.5%), of which 13 cases with severe cardiac anomalies (2.2%).There were 6 fetal demise, 3 inevitable abortion, 2 stillborn, 94 terminations of pregnancy (8 for personal factors) and 478 live birth, without spontaneous abortions and congenital infections after invasive prenatal test. The differences among the incidences of chromosomal abnormalities, structure anomalies and cardiac anomalies in five groups were statistically significant (P=0.000) and the incidences all increased with fetal NT thickness. The healthy living rates of fetus were 96.5%, 81.9%, 74.0%, 35.6%, and 6.7% among groups, respectively, and the incidences all decreased with fetal NT thickness (P=0.000). Conclusion: Increased NT thickness is related to fetal chromosomal abnormalities, severe cardiac anomalies and poor pregnant outcome. The incidences of chromosomal abnormalities, structure anomalies, cardiac anomalies and pregnant outcome all increase with fetal NT thickness. In clinical practice, individualized guidance should be conducted according to different thickness of NT.
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Objective To explore the clinical significance of non-invasive prenatal genetic testing to screen prenatal fetal chromosomal abnormalities. Methods Peripheral blood was collected from 6 283 pregnant women who underwent non-invasive prenatal genetic testing at our hospital, and fetal DNA was extracted and purified for analysis. The complementary base principle of semiconductor chip technology was used to analyze all sequenced signals with BioelectronSeq 4000. Invasive prenatal diagnosis was performed in high-risk pregnant women according to the results of the sex chromosome sequencing signal analysis. Results Of the 6 283 pregnant women screened, 14 were found to have chromosomal abnormalities, and the positive rate was 0. 22％. Karyotype analysis was performed on 11 of the women; the remaining 3 refused to be diagnosed. Of these 11 women, 2 of the 5 patients with a high risk of XO were diagnosed with fetal chromosomal abnormalities (diagnosed as XO/XXX chimera and XO, respectively), and 3 were diagnosed with a normal karyotype; 5 patients with a high risk of XXY were diagnosed as XXY; and 1 patient with a high risk of XXX was confirmed as XXX. NIPT accuracy was measured to be 73％ (8/11). The detection rate of fetal chromosomal abnormalities by non-invasive prenatal genetic testing was significantly higher in the years 2015-2016 than in 2011-2014 (P ＜ 0. 05). Conclusion Non-invasive prenatal genetic testing for screening chromosomal abnormalities has a high accuracy rate and could improve the detection rate of fetal chromosomal abnormalities.
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BACKGROUND: Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children. Alveolar RMS (ARMS) is characterized by FOXO1-related chromosomal translocations that result in a poorer clinical outcome compared with embryonal RMS (ERMS). Because the chromosomal features of RMS have not been comprehensively defined, we analyzed the clinical and laboratory data of childhood RMS patients and determined the clinical significance of chromosomal abnormalities in the bone marrow. METHODS: Fifty-one Korean patients with RMS < 18 years of age treated between 2001 and 2015 were enrolled in this study. Clinical factors, bone marrow and cytogenetic results, and overall survival (OS) were analyzed. RESULTS: In total, 36 patients (70.6%) had ERMS and 15 (29.4%) had ARMS; 80% of the ARMS patients had stage IV disease. The incidences of bone and bone marrow metastases were 21.6% and 19.6%, respectively, and these results were higher than previously reported results. Of the 40 patients who underwent bone marrow cytogenetic investigation, five patients had chromosomal abnormalities associated with the 13q14 rearrangement. Patients with a chromosomal abnormality (15 vs 61 months, P=0.037) and bone marrow involvement (17 vs 61 months, P=0.033) had a significantly shorter median OS than those without such characteristics. Two novel rearrangements associated with the 13q14 locus were detected. One patient with concomitant MYCN amplification and PAX3/FOXO1 fusion showed an aggressive clinical course. CONCLUSIONS: A comprehensive approach involving conventional cytogenetics and FOXO1 FISH of the bone marrow is needed to assess high-risk ARMS patients and identify novel cytogenetic findings.
Subject(s)
Child , Humans , Arm , Bone Marrow , Chromosome Aberrations , Cytogenetics , Incidence , Neoplasm Metastasis , Rhabdomyosarcoma , Sarcoma , Translocation, GeneticABSTRACT
Objective· To investigate the correlation between increased nuchal translucency (NT) thickness and fetal chromosomal abnormalities,severe structure anomalies and other abnormalities,and its value in assessment of fetal prognosis.Methods · Five hundred and eighty-three singleton fetuses with NT ≥ 2.5 mm in the first trimester (11-13+6 week) were retrospectively analyzed,of which 252 had invasive prenatal test for fetal chromosome and genetic tests.They were divided into 5 groups according to the NT thickness,2.5 ～ 2.9 mm,3.0 ～ 3.4 mm,3.5 ～ 4.4 mm,and ≥ 4.5 mm as 1st to 4th group,and cystic hygroma as 5th group.The incidences among groups were analyzed by Cochran-Armitage Trend test.Fisher's exact test was used to compare diversities of NT thickness among the major chromosomal abnormalities.Results · Among the 583 singleton fetuses,59 were diagnosed as chromosomal abnormalities (23.4％,59/252),38 with structure anomalies (6.5％),of which 13 cases with severe cardiac anomalies (2.2％).There were 6 fetal demise,3 inevitable abortion,2 stillborn,94 terminations of pregnancy (8 for personal factors) and 478 live birth,without spontaneous abortions and congenital infections after invasive prenatal test.The differences among the incidences of chromosomal abnormalities,structure anomalies and cardiac anomalies in five groups were statistically significant (P=0.000) and the incidences all increased with fetal NT thickness.The healthy living rates of fetus were 96.5％,81.9％,74.0％,35.6％,and 6.7％ among groups,respectively,and the incidences all decreased with fetal NT thickness (P=0.000).Conclusion· Increased NT thickness is related to fetal chromosomal abnormalities,severe cardiac anomalies and poor pregnant outcome.The incidences of chromosomal abnormalities,structure anomalies,cardiac anomalies and pregnant outcome all increase with fetal NT thickness.In clinical practice,individualized guidance should be conducted according to different thickness of NT.
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Fundamento: La trisomía del cromosoma 13 es una enfermedad genética con una incidencia reportada de 1x 20 000 nacidos vivos, que resulta de la presencia de un cromosoma 13 supernumerario; es la trisomía reportada menos frecuente en la especie humana y con diferentes expresiones clínicas. Objetivo: Reportar el caso debido a su poca frecuencia y a su forma de presentación clínica. Reporte del caso: Recién nacido a término, que nace en buenas condiciones, bajo peso al nacer, con diagnóstico prenatal de trisomía parcial 13. Evolucionó tempranamente con distres respiratorio siendo necesario el uso de ventilación mecánica y convulsiones. Se retiró de la ventilación con esfuerzo respiratorio efectivo. Otra anomalía presentada fue una comunicación interauricular e insuficiencia cardiaca. Conclusiones: El pronóstico de vida en estos pacientes se relaciona claramente con la gravedad de las malformaciones y a su vez con el grado de alteración cromosómica, es esta forma de presentación la menos complicada y la de mayor sobrevida, por lo que se recomienda una atención médica de alta especialización para lograr la estabilidad de este paciente el mayor tiempo posible.
Background: Trisomy of chromosome 13 is a genetic disease with a reported incidence of 1x 20 000 live births, resulting from the presence of a supernumerary chromosome 13; is the trisomy reported less frequent in the human species and with different clinical expressions. Objective: To report the case due to its infrequency and to its clinical presentation. Case report: Newborn to term, born in good condition, underweight at birth, with prenatal diagnosis of partial trisomy 13. Early evolution with respiratory distress with the need of using the mechanical ventilation and convulsions. Ventilation was retired with effective respiratory effort. Another anomaly presented was atrial septal defect and heart failure. Conclusions: The prognosis of life in these patients is clearly related to the severity of the malformations and, in turn, to the degree of chromosomal alteration, this form of presentation is the least complicated and the one with the highest survival rate, Of high specialization to achieve the stability of this patient as long as possible.
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Trisomy/genetics , Chromosome Aberrations , Chromosome DisordersABSTRACT
Among hematologic diseases, structural abnormalities of autosomal chromosomes are well-known, but cases involving the sex chromosomes are uncommon. Duplications of the long arm of chromosome 1 have been reported in several hematologic diseases including myelodysplastic syndrome, myeloproliferative neoplasms, acute myeloid leukemia, acute lymphoblastic leukemia, and Burkitt lymphoma. However, dup(1q) as a der(Y)t(Y;1)(q12;q12) is very rare. Here, we report a case of essential thrombocythemia harboring der(Y)t(Y;1)(q12;q12) with literature review.
Subject(s)
Humans , Arm , Burkitt Lymphoma , Chromosome Aberrations , Chromosomes, Human, Pair 1 , Hematologic Diseases , Leukemia, Myeloid, Acute , Myelodysplastic Syndromes , Precursor Cell Lymphoblastic Leukemia-Lymphoma , Sex Chromosomes , Thrombocythemia, EssentialABSTRACT
Objective To provide valid data and useful genetic counseling in the clinical application of non‐invasive prenatal test (NIPT) ,fetal chromosomal disorder were screened by massive parallel sequencing and made a follow‐up study .Methods Preg‐nant women with Down screening in high‐risk were screened by NIPT ;NIPT verified high‐risk individuals were suggested for kary‐otyping ;and we follow up on whoever showed low risk by NIPT before and after their deliveries .Results (1)Totally 1 676 cases of pregnant women were tested by NIPT ,25 cases prompted to be abnormal ,with an abnormal rate of 1 .49% ,karyotype analysis re‐sults in 12 cases of abnormalit ,the accuracies of NIPT for T21 ,T18 ,XO ,XXY ,and XYY were 99 .93% ,100 .00% ,99 .66% , 100 .00% ,100 .00% respectively ;the accuracy of NIPT for women with advanced paternal age and twins were both 100 .00% ;kary‐otyping positive individuals underwent abortion ,which gives a prenatal intervention rate of 100 .00% .(2)Out of 1 651 cases of NIPT low risk testers ,1 468 cases were successfully followed up ,with a 88 .91% success rate .We found chromosome abnormality with one case of inversion of chromosome 9 (maternal) .(3)Ultrasound‐detection possessed 98 .17% accuracy and 7 .69% in detec‐tion rate;in high‐risk pregnant woman ,Down screening had an accuracy of 0 .88% and false positive rate of 99 .12% ;98 .71%women were avoided prenatal diagnosis via NIPT .Conclusion Compare to ultrasound and maternal plasma screening ,NIPT is a far more accurate prenatal screening approach .To build effective follow‐up and service systems of NIPT is necessary to reduce birth de‐fects in medical institutions .
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Objective To analyze the chromosome karyotypes,prenatal diagnosis indications and pregnancy outcomes of high-risk pregnant women in Guangzhou.Methods 2 475 cases pregnant women with screening high risk were operated amniocen-tesis or cordocentesis from January 2010 to September 2012,then amniotic fluids and cord bloods were cultured and the cell were collected for chromosome preparation,G banding,karyotype analysis.We completed follow-up works lastly.Results 38 cases were detected chromosomal abnormality(including 12 cases Down′s syndrome,9 cases sex chromosome abnormality,7 cases transloca-tion,5 cases Edwards′syndrome,2 cases inversion,2 cases deletion,1 cases triploid),the abnormal rate was 1.54%.132 cases were detected chromosomal polymorphism(60 cases 1,9,16qh+ ,30 cases inv(9),25 cases D/Gs+ ,17 cases Y polymorphism).Research on prenatal diagnosis indications,there were 449 cases advanced age,668 cases Down′s screening with high risk,158 cases with ab-normal B ultrasound screening,38 cases with adverse pregnancy history.Conclusion The highest percentage abnormal karyotype is Down′s syndrome.Down′s screening high risk is the main reason for prenatal diagnosis.It is very important to do prenatal diagnos-tic and system B ultrasound for the high-risk pregnant women.
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ObjectiveTo evaluate the clinical value of prenatal ultrasonography combined with maternal serology screening for chromosomal abnormality in 15 to 20+6 gestational weeks.MethodsSix hundred and twenty-eight pregnant women (628 fetuses) in 15 to 20+6 gestational weeks were selected to undergo prenatal ultrasonography, who were in critical risk of trisomy 21 or trisomy 18 by maternal serology screening. Transabdominal ultrasonography were performed and fetal nasal bone and nuchal fold were detected. Those who had nasal bone hypoplasia, thickened nuchal fold (NF>6 mm) and other abnormal fetal soft markers underwent amniocentesis for karyotyping analysis. ResultsThere were 6 cases of nasal bone hypoplasia (0.96%, 6/628), including one case of thickened nuchal fold, two cases of echogenic bowel, two cases of choroid plexus cysts and 1 case of echogenic cardiac focus. All these 6 cases underwent amniocentesis and 2 were trisomy 21 (33.3%, 2/6). The other 4 cases had no significant chromosomal abnormality.ConclusionsPrenatal ultrasonography may improve the detection rate of chromosomal abnormality for those pregnant women who are in critical risk of chromosomal abnormality prompted by serology screening. But invasive procedures are still needed to verify the chromosomal abnormality.
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Isodicentric chromosome 15 [idic(15)] is a rare chromosomal abnormality that occurs due to inverted duplication of chromosome 15q. It is associated with many clinical findings such as early central hypotonia, developmental delay, cognitive dysfunction, autism spectrum disorders, and seizure. Delayed development is a common problem referred to pediatric rehabilitation clinics. A 9-month-old boy with delayed development was referred to our clinic for assessment and treatment. On chromosomal analysis, he was diagnosed as idic(15) syndrome with 47,XY,+idic(15)(q12) on karyotyping. Herein we describe his clinical manifestations and provide a brief review of the related literature.
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Child , Aneuploidy , Autism Spectrum Disorder , Chromosome Aberrations , Chromosomes, Human, Pair 15 , Developmental Disabilities , Karyotyping , Muscle Hypotonia , SeizuresABSTRACT
Objective To investigate the healthy status of newborns with isolated single umbilical artery(ISUA).Methods A retrospective analysis was performed between newborns with ISUA (ISUA group,n =78)or without ISUA (control group,n =78),which were borned in our hospital during Jun 2006 ～Oct 2012.We compared the Apgar score at 1 and 5 minute,birth-weight,incidence of newborns admitted by neonate intensive care unit and pH value of umbilical arterial blood.The incidence of mothers amniocentesis for prenatal chromosome examination and outcomes of two groups were investigated.Results The birthweight of newborns with ISUA[(3246 ±75) g] was lower than that of the control group[(3565 ±58) g],the difference was statistically significant(P ＜ 0.05).While the differences of Apgar score,the incidence of newborns admitted by neonate intensive care unit,and pH value of umbilical arterial blood between two groups showed no significance (P ＞ 0.05).There were 26 cases underwent amniocentesis in ISUA group,however 1 case in control group.The fetal chromosomal tests were normal.Conclusion The healthy status of newborns with ISUA are the same as the newborns with three-vessel umbilical cord,and we need not take more care of the newborns with ISUA.
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Objective To investigate the clinical values of multiple ultrasound soft markers in screening for fetal chromosomal abnormality during first-trimester.Methods Two thousand seven hundred and eighty-nine nulliparas in Department of Obstetrics,the First Affiliated Hospital of Jinan University during early pregnancy (11-13+6 gestational weeks) were selected for this study.Fetalnuchal translucency (NT),facial angle (FA),ductus venosus (DV),fetal heart rate (FHR),tricuspid reverse (TR),nasal bone (NB) and fetal structures were scanned and measured.Risk calculation software (Astraia) was used to calculate the chromosomal abnormal risk (cut-off line:＞1/300) based on ultrasound records.The chorionic villi or amniotic fluid of high risk patients was collected with informed consent for karyotype analysis (prenatal diagnosis).All patients were followed up until six months after delivery.Chi-square test or Fisher exact test was used to compare the difference.Results One hundred and seven cases were high-risk of trisomy 21 among which 96 cases accepted invasive prenatal diagnosis.Sixteen chromosomal anomaly and six trisomy 21 cases were diagnosed out the 96 fetuses.Among 2789 cases,four were high-risk of trisomy 21 according to ultrasound screening.Six cases were diagnosed as trisomy 21.The false positive rate of ultrasound screening was 3.6％(101/2783).There were 196 cases whose NT ≥2.5 mm,in which 66 cases were high risk of chromosomal abnormality,and 16 fetal chromosomal abnormalities were diagnosed after chorionic villus sampling.The invasive procedure rate was 2.3％ (66/2789).Totally,186 pregnant women were older than 35 years,among which 32 cases were high risk.There was no significantly difference on the of rate fetal chromosomal abnormality between the groups of age≥ 35 pregnant women and the general population (P=0.055).But 29.9％ (32/107) high risk cases were detected in the group of age≥35.Five of thirteen fetal malformations cases were associated with abnormal karyotype.Conclusions Multiple ultrasound soft markers screening during early pregnancy could increase the diagnosis rate of chromosomal abnormality and decrease the false positive rate,false negative rate and invasive procedure rate.Early ultrasound screening might be effective in not only identifying chromosomal abnormality,but also diagnosing severe structure deformity of fetus.
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Acute myeloid leukemia with maturation (AML-M2) is associated with the 8;21 translocation. For the first time in an adult patient with AML-M2, a novel unbalanced translocation involving the short arm of chromosome 11 and long arm of chromosome18 with new breakpoints is presented. CD82 on band 11p11.2 and GATA 6 on 18q11.2 may play a role in the pathogenesis of de novo AML M2. The report with translocation (11;18)(p11.2;q11.2), as the sole cytogenetic abnormality provides more data on the leukemogenesis of de novo AML M2.
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Background: Infertility affects approximately 10%-15% of couples in reproductive age. In half of the couples, causes are male-related, associated with impaired spermatogenesis. There is a complex correlation between genetics and infertility. Several factors affect on gametogenesis, from which factors that lead to chromosomal abnormalities are one of the best known. The aim of this study was to determine type and rate of chromosomal abnormalities in infertile azoospermic and oligospermic males in Iranian population. Materials and Methods: The records of a total of 222 participants were evaluated retrospectively. Results: As a whole we observed 13.96% chromosomal abnormality, from which 12.15% showed numerical and 1.8% showed structural abnormalities. Conclusion: Comparison of our results with the review of the literature shows a higher incidence (4- fold) of gonosomal, in particular, numerical gonosomal, chromosomal anomalies. Cytogenetic analysis is strongly suggested for infertile men, particularly in those who suffer from azoospermia.
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Adult , Chromosome Aberrations/epidemiology , Chromosome Aberrations/genetics , Humans , Infertility, Male/epidemiology , Infertility, Male/genetics , Iran , MaleABSTRACT
There have been a few reports of hemophagocytic lymphohistiocytosis (HLH) with chromosomal abnormalities. Clonal chromosomal abnormalities in HLH patients are usually found in association with hematologic malignancies and rarely with epstein-barr virus (EBV) infection. Here, we report a fatal case of HLH with clonal karyotype abnormalities. A 75-yr-old man was admitted with persistent anorexia and high fever. Laboratory data revealed pancytopenia, hypofibrinogenemia, hyperferritinemia, prolonged prothrombin time and activated partial thromboplastin time, and marked elevated level of serum transaminases. In real time-PCR using whole blood, EBV DNA was not detected but cytomegalovirus (CMV) DNA was detected. The bone marrow aspiration smear showed hyperplasia of mature histiocytes with prominent hemophagocytosis. In chromosomal analysis of bone marrow aspirates, complex chromosomal abnormalities were found. In spite of steroid pulse therapy and antibiotic treatment, he died of disseminated intravascular coagulopathy.