Chromosome Karyotype Analysis Research Articles

Identification of a de novo interstitial 21q22.12q22.13 deletion in a patient with intellectual disability

To explore the genetic basis of a child featuring intellectual disability, developmental delay and epilepsy. Cytogenetic and molecular analysis including chromosomal karyotyping analysis, single nucleotide polymorphism array (SNP array) and qPCR were performed. The karyotype of the child was determined as 46, XX; SNP array: arr [19]21q22.12q22.13(36 860 195-38 801 482)×1 dn. A heterozygous 1.9 Mb microdeletion was detected at 21q22.12q22.13. qPCR has confirmed deletion of exon 1 of the DYRK1A gene, which has occurred de novo. A 21q22 deletion was diagnosed with multiple genetic methods. Genotype-phenotype correlation suggested DYRK1A to be a candidate for intellectual disability.

Chromosomal aberrations in women with primary and secondary amenorrhea: A cross-sectional study.

Among women of childbearing age, about 2-5% are affected by amenorrhea that is either primary or secondary. However, there are no data regarding the frequency and type of chromosomal abnormalities associated with amenorrhea in Saudi women. The present study aims to establish the frequency and pattern of chromosomal abnormalities in primary amenorrhea (PA) and secondary amenorrhea (SA) cases in a tertiary care center, Riyadh, Saudi Arabia. This cross-sectional study was conducted between 2013 and 2016 on women referred to the Reproductive Endocrine and Infertility Medicine Department at a tertiary care center in Riyadh. Women were divided into two groups: PA and SA. After the initial diagnosis of amenorrhea based on medical history, physical examination, hormonal profile and ultrasonography, chromosome karyotype analysis was conducted on metaphase preparations following routine cytogenetics culture and harvest methods. Chromosomal tests were performed for 53 patients (42 with PA and 11 with SA) out of 79 referred patients with amenorrhea. About 19% of the 42 patients with PA and 1 patient (9.1%) diagnosed as SA showed an abnormal karyotype. The most common abnormal karyotypes observed were 46, XY and 45, X. The present study indicates that the chromosomal analysis after the exclusion of nongenetic causes should be essentially considered for the precise diagnosis and the development of more successful management for females with amenorrhea. This study also revealed that the prevalence of chromosomal abnormalities in women with PA and SA is similar to that reported in the literature.

Live born monochorionic dizygotic twins after in vitro fertilization: a case report

This paper reported a pair of twin babies who were diagnosed as monochorionic (MC) twins (MC) in the first-trimester ultrasound scan after in vitro fertilization. Fluorescence in situ hybridization and chromosomal karyotype analysis of amniotic fluid that was randomly collected from one of the twins were performed in the second trimester, but no abnormality was detected. Chromosome karyotype analysis of peripheral blood of the twins at the age of two days and three years showed that both were chi 47,XY,+21/46,XX. And the single nucleotide polymorphism microarray analysis of oral mucosa cells of the twins at three years old showed that the boy was 47,XY,+21 and the girl was 46,XX. Therefore, we confirmed that they are MC dizygotic twins presenting with blood chimerism but no tissue chimerism. Simply the boy presented with facial features of Down syndrome. Key words: Twins, dizygotic; Fertilization in vitro; In situ hybridization, fluorescence; Karyotyping; Polymorphism, single nucleotide

Non-invasive prenatal testing for detection of trisomy 13, 18, 21 and sex chromosome aneuploidies in 8594 cases.

Cell-free fetal DNA has been widely used in prenatal genetic testing during recent years. We explored the feasibility of non-invasive prenatal testing (NIPT) for analysis of common fetal aneuploidies among pregnancies in northwest China. A total of 8594 maternal blood samples were collected from October 2014 to December 2017 in the Department of Obstetrics and Gynecology at the First Affiliated Hospital of the Air Force Medical University. Cases with positive screening results by NIPT detection were validated using karyotype analysis. Of 8594 clinical pregnancies, 88 had positive NIPT results and 78 of 88 (88.6%) positive NIPT results were shown to be false-positive by amniotic fluid puncture and chromosome karyotyping analysis. There were 44 cases (49.44%) with trisomy 21, 18, and 13 syndromes (30 cases of trisomy 21, 9 cases of trisomy 18, and 5 cases of trisomy 13). There were 44 cases (50.56%) with sex chromosome abnormalities, including 11 cases with Turner syndrome (45, X), 17 cases with Triple X syndrome (47, XXX), 2 cases with Klinefelter syndrome (47, XXY), and 14 cases with 47, XYY syndrome (47, XYY). The accuracy, specificity, high efficiency, and acceptance of NIPT can effectively avoid birth defects and improve the quality of the birth population. We should deepen mining and analysis of the clinical data and explore ways to use NIPT. It is recommended that the NIPT guidelines be extended to low-risk patients to further explore the impact of a significant increase in screening.

Cytogenetics and associated mutation profile in patients with acute monocytic leukemia.

Cytogenetics and molecular testings for disease classifying and prognosis estimation are becoming routine in clinical practice. However, the molecular characteristics of acute monocytic leukemia (AML-M5) remain unclear. The aim of this study was to investigate the association between karyotypes and gene mutations, especially in AML-M5 patients with 11q23/KMT2A (MLL) rearrangement and normal karyotype. A total of 126 de novo AML-M5 patients were screened for mutations in the 51 genes known or suspected to have a role in myeloid malignancies or in monocytic differentiation using next-generation sequencing (NGS). Chromosome karyotype analysis was performed by R-banding method and further confirmed either by fluorescence in situ hybridization (FISH) and/or by multiple reverse transcription polymerase chain reaction (multiple RT-PCR). Of the 126 patients, one or more mutations were detected in 83.3% patients. FLT3-ITD and NRAS had the highest mutation frequency, followed by NPM1, DNMT3A, TET2, KRAS, and RUNX1. We also identified a significant difference in mutational spectrums between KMT2A-rearranged (KMT2Ar) patients and normal karyotype (NK) patients, as reflected in the average number of gene mutations per patient (1.66 vs 2.46), and in the frequencies of commonly mutated genes (FLT3-ITD: 6% vs 43.5%; NPM1: 0% vs 43.5%; RUNX1: 2.0% vs 15.2%; DNMT3A: 4% vs 26.1%; KRAS: 24.0% vs 4.35%). Patients harboring ≥3 mutations showed much lower complete remission rate than that with double mutations (P=0.043) in high-risk group. There was a significantly different mutation profile between KMT2Ar-patients and NK patients. Our research provided new insight into the molecular characteristics of AML-M5.

Possibility of early diagnosis in a fetus affected by Prader‑Willi syndrome with maternal hetero‑UPD15: A lesson to be learned.

Prader-Willi syndrome (PWS), a complicated neurodevelopmental disorder arising from errors in genomic imprinting, is characterized by evident hypotonia along with feeding difficulties and the absence of crying in early infancy. Hyperphagia and obesity are not uncommon in patients with PWS, usually accompanied by intellectual disability, cognitive impairment, short stature, small hands and feet, as well as hypogonadism and typical facial features. Due to the severe complications associated with PWS, a thorough understanding of its features and an early diagnosis, preferably in the fetal period, are important for clinical management. According to previous studies, prenatal diagnosis has been confirmed in only a few cases of PWS, using ultrasound, or as an accidental finding by cytogenetic molecular techniques, as no precise fetal phenotype has been defined. In this present study, an infant with PWS arising from maternal heterodisomy of chromosome 15 is described. This is a typical case of missed diagnosis by fetal ultrasound examination, chromosome karyotype analysis and chromosome microarray (CMA) conducted during the pregnancy. To delineate the complex prenatal characteristics of a fetus with PWS, prenatally-diagnosed cases of PWS described in the literature were reviewed. This present study indicated that although prenatal signs are not sufficient for a diagnosis to be confirmed, a comprehensive consideration of these signs is important in leading to a diagnosis of suspected PWS, and thus prompts further prenatal investigations using molecular genetic tools. Furthermore, this present study also suggested that CMA can lead to a missed diagnosis of PWS/Angelman syndrome and other imprinting disorders despite its high value in the detection of copy-number variants in individuals with developmental delay. If clinical signs strongly suggest PWS, other prenatal molecular genetic investigations, including methylation tests and short tandem repeat-based linkage analysis for uniparental disomy, are recommended as an additional tool to aid diagnosis.

Diagnostic value of ultrasound scan at 16 to 18 gestational weeks in euploid fetuses with increased nuchal translucency

Objective To investigate the diagnostic value of ultrasound scan at 16 to 18 gestational weeks in euploid fetuses with increased nuchal translucency (NT). Methods From January 2015 to June 2017, 214 fetuses diagnosed with increased NT thickness (NT ≥3.0 mm) during early pregnancy in Guangzhou Panyu Central Hospital were enrolled. Fetal chromosome karyotype analysis was carried out prenatally. Those cases with normal karyotype underwent ultrasound scan at 16-18 and 20-24 gestational weeks and their outcomes were followed up via telephone. Descriptive statistics was used for statistical analysis. Results There were 198 out of the 214 cases undergoing chromosome karyotype analysis and among them, 78 (39%) pregnancies were terminated due to chromosomal abnormalities. Out of the 107 cases with normal karyotype and successful follow-ups, 35%(37/107) had structural malformations. There were 19, 11 and 6 cases of fetal structural malformations diagnosed at 11-13+6, 16-18 and 20-24 weeks of gestational age, respectively, and the rest one was at 28 weeks. Structural deformities detected at 16-18 weeks included cleft lip and palate (n=2), cardiac malformations (n=2), spinal deformities (n=2), body deformities (n=2), diaphragmatic hernia (n=1), encephalocele (n=1) and left multicystic dysplastic kidney (n=1). About 91% (70/77) of the fetuses with normal karyotype but without abnormal ultrasound findings at 16-18 weeks were free of structural malformations and achieved good pregnant outcomes. Conclusions Ultrasound screening at 16 to 18 weeks of pregnancy can be used to detect multiple structural malformations in fetuses with increased NT and normal karyotype, which may contribute to early detection of fetal structural malformations and help gravidas and their families make timely decisions. Key words: Ultrasonography, prenatal; Nuchal translucency measurement; Pregnancy outcome

Construction of amniotic cell line with chromosomal abnormalities and its application in the quality control of chromosome karyotype analysis

The aim of this study was to investigate the application of amniotic fluid cell lines with chromosomal abnormalities in the external quality assessment (EQA) of prenatal karyotype analysis. Simian virus 40 large T antigen (SV40LT) gene was transfected into amniotic fluid cells with 46,XY,t(15;17)(q11;q11) and 46,XY by liposome transfection. Control cell lines were produced by mixing the above two in ratios of 1:19, 1:1 and 9:1, respectively. The cells were then frozen at −30 °C, mailed between laboratories, prepared for chromosome analysis, photographed with karyotype, and evaluated. After the two amniotic fluid cell lines and the control cell lines were serially passaged for 10 generations, they were still spindle-shaped with adherent growth. The 46,XY,t(15;17)(q11;q11) line preserved the original amniotic fluid karyotype, whereas a small number of cells with 46,XY, had changes of chromosomal structure. After mailing between laboratories, the abnormal karyotype was scored to constitute, 10.8%, 54.2% and 81.2% on average in the 1:19, 1:1 and 9:1 samples, respectively. There were significant differences (P < 0.05) between the actual scores and the theoretically expected ones with respect to the controls with 5% and 90% abnormal karyotype, whereas no significant difference (P > 0.05) with respect to the ratio of 50%. Overall, we demonstrated that the SV40LT gene could immortalize amniotic fluid cells with chromosomal abnormalities. The immortalized cells with and without chromosomal abnormalities mixtured in different ratios could then serve as control cells in the EQA of prenatal karyotype analysis.

Retrospective Analysis of Genetics Abnormalities in Patients with Multiple Myeloma

To explore the characteristics of cytogenetics and molecular genetics in patients with multiple myeloma(MM). Fluorescence in situ hybridization(FISH) was used for molecular genetics analysis in 86 cases of newly diagnosed MM, at the same time the chromosome karyotype analysis was performed in 20 cases. Specimen were bone marrow cells. FISH detection showed that 68 cases of MM (79.07%) had at least one type of the molecular genetic abnormalities. The positive rates of IgH rearrangement, 1q21 amplification, D13S319 deletion, RB1 deletion and.P53 deletion were 62.79%, 26.74%, 24.42% ,13.95% and 1.16%, respectively. The positive rate of IgH was significantly higher than that of any other probes(P<0.01). The positive rate of IgH was 79.41% in 68 cases. Out of which the positive rate of IgH single and combined with 1, 2, 3, 4 probes was 59.26%, 24.07%, 11.11%, 5.56% and 0 respectively. The positive rate of IgH only was very signficantly higher than that of combined with any other probes(P<0.01).The positive rate of 1q21 was 33.82% in 68 cases, Out of which the positive rates of 1q21 or combined with 1,2,3,4 probes was 21.74%, 43.48%, 21.74%,13.04% and 0 respectively, the 1q21 probe showed positive as combined with other probes(P<0.01), especially with IgH(P<0.05). The positive rates of D13S319 were 30.88% in 68 cases of patients, out of which the positive rates of D13S319 single or combined with 1, 2, 3, 4 probes was 14.29%, 28.57%, 42.86%, 14.29% and 0 respectively, the D13S319 combined with other probes appeared more significant positive(P<0.01), especially with 1 or 2 probes (P< 0.01). The positive rate of RB1 was 17.65% in 68 cases, the positive rate of RB1 singl or combined with 1, 2, 3, 4 probes were 0, 25%, 50%, 25% and 0, the RB1 appeared positive always combined with other probes, especially with D13S319 probe (P<0.01). The positive rate of P53 was 1.47%, as combined with RB1 and D13S319 probes. The chromosomal karyotyping showed that 3 cases carried abnormal chromosomal and 17 cases carried normal chromosome, Out of which 17 cases showed positive by FISH. There was a significant difference of sensitivity between FISH combined with chromosome karvotyping and single chromosome karvotype (P< 0.01). The genetic abnormalies display obvious heterogenicity in MM. The sensitivity of FISH is higher than that of chromosomal karvotyping. If FISH and chromosome karvotyping are combined, the positive rate of abnormality can be raised.

RNA Binding Protein Rbmx Is Required in Acute Myeloid Leukemia By Regulating the Transcriptional Activity of the Heterochromatin Protein HP1α

Acute myeloid leukemia (AML) is characterized by a block in the development of myeloid cells, often due to dysregulation of genes involved in key processes including self-renewal, proliferation, and differentiation. Somatic mutations and aberrant expression of RNA binding proteins (RBPs) have recently been found to be important in hematological malignancies. For example, our group and others have recently determined that increased expression of MUSASHI-2 and SYNCRIP drives aggressive leukemia. To discover novel RBP regulators of leukemia, we performed an in vivo pooled shRNA screen of 127 MSI2 direct protein interactors and associated genes (Vu et al. Nat Gen. 2017). In this screen, shRNAs specific to the RBP RBMX (RNA binding motif protein, X-linked) were selectively depleted in murine MLL-AF9 driven leukemia. RBMX has been implicated in regulating alternative splicing, chromatin cohesion, and DNA-damage response, but its function in hematopoiesis and leukemia is not known. We confirmed that depletion of RBMX with shRNAs in murine MLL-AF9 leukemia cells resulted in reduced myeloid colony formation, increased apoptosis, and increased differentiation as determined by flow analysis of myeloid cell surface markers Gr-1 and Mac-1 (mean of 61-65% shRNA versus mean of 12.95% control). Furthermore, RBMX is highly expressed among human myeloid leukemia cell lines (n=10/11) and primary AML patient samples (n=2/4). Depletion of RBMX with shRNAs led to a dramatic decrease in cell proliferation and 3-fold induction of apoptosis in several human myeloid leukemia cell lines (MOLM-13, THP-1, K562, and KCL-22). Additionally, RBMX depletion in AML cells induced myeloid differentiation and significantly delayed leukemogenesis cells in vivo (median survival of 51.5 days in control versus median ‘not reached’ in shRNA1 and shRNA2). To determine if there is a differential requirement of RBMX in survival of leukemia cells compared to normal hematopoietic stem and progenitor cells (HSPCs), we depleted RBMX with shRNAs in normal murine bone marrow c-Kit+ cells and found no significant changes in colony formation. Depleting RBMX with shRNAs in human cord blood derived CD34+ HSPCs resulted in reduced colony formation but no increase in apoptosis. Thus, these data suggest that there is a differential requirement for RBMX in myeloid leukemia cells compared to normal cells. To uncover the mechanism of RBMX function, we performed RNA-sequencing of human AML cells (MOLM-13) depleted for RBMX. Gene set enrichment analysis demonstrated a loss of cell cycle and DNA repair associated programs in RBMX depleted cells. Complex chromosomal karyotyping analysis of these cells revealed increased metaphases with breaks and gaps (mean of 30.67% shRNA versus mean of 13.33% control) and irregular chromatin compaction (mean of 47.67%shRNA versus mean of 20% control), while cell cycle analysis showed significantly increased S-phase arrest as determined by flow analysis of Hoechst stained cells (mean of 37-40% shRNA versus of 24.18% control). Reanalysis of RBMX transcriptome-wide binding sites in 293T cells revealed that RBMX directly binds to heterochromatin protein HP1α transcripts (Liu et al. Nucleic Acids Res. 2017). HP1α, also called CBX5, is a key heterochromatin protein that binds to histone H3-K9 tri-methylation marks to promote heterochromatin formation, which is critical in chromatin condensation and chromosome segregation. HP1α has also been determined to be required for MLL leukemia stem cell maintenance. We demonstrated that RBMX depletion resulted in a significant decrease of HP1α mRNA expression without affecting its mRNA stability in AML cells. We confirmed that RBMX depletion reduced the protein abundance of HP1α. Moreover, overexpression of HP1α rescued the effect of RBMX depletion on cell growth and apoptosis. Our study finds that RBMX binds to HP1α mRNA and regulates the transcriptional activity of the HP1α locus, which then maintains proper chromatin compaction in leukemia cells. Overall, we determine that RBMX function is critical for myeloid leukemia survival and has potential as a novel therapeutic target in AML. DisclosuresNo relevant conflicts of interest to declare.

Detection and Analysis of 12 Suspected Amelogenin Allelic Loss Cases.

To observe and analyse the Amelogenin allelic loss in parent-child identification cases, and to explore the type and mechanism of Amelogenin allelic loss as well as its influence on gender identification and solutions. After the detection by SiFaSTR™ 23plex DNA identification system, samples had the characteristics of the peak area of Amelogenin X was the same as the one of adjacent heterozygote or lower than one half of adjacent homozygote in females while Amelogenin X loss was observed in males were selected. X chromosome STR （X-STR） typing and Amelogenin X sequencing were performed. The samples with Amelogenin Y loss in males were confirmed by the detection of Y chromosome STR typing and sex-determining region of Y （SRY）. The type and rate of Amelogenin allelic loss were confirmed and calculated, and the mechanism and influence of this variation were also analysed. Amelogenin X allelic loss was observed in one male sample, the mutation in primer-binding region was confirmed by sequencing. The suspected Amelogenin X allelic loss was observed in four female samples, but the mutation in primer-binding region was confirmed by sequencing in only one sample. Amelogenin Y allelic loss was observed in seven male samples, SRY positive cases was detected in five of them, and two were SRY negative. Y-STR type was detected in four cases of the five SRY positive cases, which was not detected in the two SRY negative cases. The rate of Amelogenin allelic loss was about 0.029%. Amelogenin X allelic loss does not affect the gender identification, but Amelogenin Y allelic loss may cause wrong gender identification. Thus, Y-STR or SRY should be detected for gender confirmation. When Y-STR genotypes are not detected in a "male" whose SRY detection is also negative, then the chromosome karyotype analysis and sex differentiation related genes test should be taken to further confirm the gender.

Detection of Gene Abnormalities in 43 Cases of Chronic Lymphocytic Leukemia by Fluorescence in Situ Hybridization

To explore the value of fluorescence in situ hybridization (FISH) in diagnosis and prognosis evaluation of chronic lymphocytic leukemia (CLL). R banding technique was used for karyotype analysis in 43 cases of CLL, and fluorescence in situ hybridization（FISH） technique was used for analysis of 5 genes in 43 cases of CLL, including D13S25, RB1,ATM, P53 and CEP 12 . The detection rate of chromosome abnormality was 9.3％ for the 43 cases. The chromosome karyotype abnormality was involoved in the number abnormality and the structural abnormality, including No. 2, 6, 14, and sex chromosome. The patients with normal chromosome karyotype were more common（79.1％）. At the same time, mitotic figure in 5 CLL patients did not observed. The positive rate of FISH detection was 55.8％(24/43). Among which, D13S25 deletion was the highest and reached to 37.2％, followed by RB1 deletion（20.9％）, CEP 12 amplification（16.3％）, ATM deletion（9.3％） and P53 deletion（7.0％）. In 24 FISH-positive cases, 20 cases displayed the normal chromosome karyotype, and in 3 cases the mitotic figure was absent. There was only one case of abnormal chromosome, which was not involved in the positive gene tested by FISH. FISH is an important means of CLL genetic detection, which can greatly raise the detection rate of cytogenetics abnormalities in CLL, but the probe quantity is limited, so it is necessary to use FISH technology combined with chromosome karyotype analysis so as to improve the detection rate of abnormal cytogenetics, and provide the basis for the clinical diagnosis and prognosis of CLL.

Karyotypic Analysis of four Species of Genus Blumea (Asteraceae) from Nepal

In this study chromosome number determination and karyotype analysis of four species of genus Blumea from the family asteraceae was carried out. The specimen plants were collected from central parts of Nepal, namely Blumea fistulosa (Roxb.) Kurz, Blumea lacera var.glandulosa (DC.) Hook, Blumea lacera (Buem f.) DC. and Blumea laciniata DC were observed. The chromosome number in somatic cells were recorded to be 2n= 22 in Blumea fistulosa; 2n= 32 in Blumea lacera var.glandulosa; 2n=18 in Blumea lacera and Blumea laciniata. The range of chromosome length found to be 0.6 to 1.6 µm in Blumea fistulosa, 0.6 to 1.6µm in Blumea lacera var.glandulosa, 0.6 to 1.7 µm in Blumea lacera and 0.8 to 1.6 µm in Blumea laciniata. Karyotype formula for Blumea fistulosa is M12+ sm10, for Blumea lacera var. glandulosa is M14+sm14+ st4, for Blumea lacera is M14+ st2 and for Blumea laciniata is M12+ sm6 in Blumea laciniata. In this investigation a pair of satellite chromosome found in only one species Blumea fistulosa at the end of shot arm of chromosome. Mainly three types of chromosomes observed in this study having centromere at middle point, at sub-median region and at sub-terminal region. Numerical and structural variation in chromosome are evolutionary significance. Similarity in size of chromosomes and karyomorphology indicates the homogeneity of the taxa within this tribe. Int. J. Appl. Sci. Biotechnol. Vol 6(2): 115-121

A foetus with 18p11.32-q21.2 duplication and Xp22.33-p11.1 deletion derived from a maternal reciprocal translocation t(X;18)(q13;q21.3)

BackgroundNon-invasive prenatal testing (NIPT) evaluates circulating cell-free DNA (cfDNA) and has been widely applied, with highly accurate results for detecting foetal trisomies 21, 18 and 13. Recently, increasing attention has been paid to the clinical application of the non-invasive detection of foetal sub-chromosomal duplications and deletions beyond common aneuploidies.Case presentationA 32-year-old healthy pregnant woman was referred to the Medical Genetic Centre of Ganzhou Maternal and Child Health Care Hospital. As routine practice, ultrasound examination at a gestational age of 16 weeks showed that the foetus is normal. To avoid invasive prenatal diagnosis procedures, an NIPT was offered to further screen for common foetal chromosomal abnormalities. The result showed that there was an approximately 50.94 Mb duplication in p11.32-q21.2 of chromosome 18 and an approximately 58.46 Mb deletion in p22.33-p11.1 of chromosome X. In addition, the chromosome karyotypes of the parents and foetus were also analysed. Chromosome karyotype analysis results showed that foetal karyotype was 46,X,der(18), the maternal karyotype was 46,XX,t(X;18)(q13;q21.3), and the paternal karyotype revealed no obvious abnormality.ConclusionIn this case, we successfully detected a healthy pregnant woman with balanced translocation X;18(q13;q21.3) and described the foetal karyotype as 46,X,der(18)t(X;18)(q11;q21.1)mat. Our report illustrated these cases which present complex X;autosome balance translocation and X;autosome unbalance translocation which may contribute to severe clinical phenotypes. In addition, our report also proved that the interruption of genes in the Xq critical region is not only reason of primary infertility. Finally, we prompted that NIPT might play a role in the first trimester screening of sub-chromosomal rearrangement.

Application of single nucleotide polymorphism microarray and fluorescence in situ hybridization analysis for the prenatal diagnosis of a case with Pallister-Killian syndrome

To explore the clinical and genetic characteristics of a case with Pallister-Killian syndrome (PKS). Chromosomal karyotype of umbilical cord blood sample derived from a 36-year-old pregnant woman was analyzed by G-banding analysis. After birth, the child was further analyzed with single nucleotide polymorphism microarray (SNP array) and fluorescence in situ hybridization (FISH) using 12pter/12qter probes. G-banding analysis showed that the fetus has a karyotype of 46,XY [77]/47,XY,+mar [23]. After birth, Affymetrix CytoScan 750K array analysis showed a segmental tetrasomy of arr [hg19] 12p13.33p11.1(173 786 - 34 835 641)×4 and a 34.6 Mb repeat at 12p13.33p11.1 with in the neonate. FISH analysis confirmed that 39% of cells harbored the 12p tetrasomy. Combined clinical examination, G-banded chromosomal karyotyping, FISH and microarray analysis can delineate the origin and fragments of small supernumerary marker chromosomes and diagnose PKS with precision.

Chromosome counts and karyotype analysis of some representatives of genusCirsiumMill. (Asteraceae) in Turkey

AbstractThe chromosome number and karyotype analysis of nine species (10 taxa) of genus Cirsium Mill. distributed in Turkey were analyzed. The somatic chromosome number of Cirsium sipyleum O. Schwarz, C. candelabrum Griseb., C. creticum d’Urv. subsp. creticum, C. elodes M. Bieb., C. subinerme Fisch. & C. A. Mey., C. leucopsis DC., C. libanoticum DC. subsp. arachnoideum P. H. Davis & Parris and C. arvense (L.) Scop. were determined as 2n=2x=34. Cirsium pubigerum DC. var. caniforme Petr. and var. paphlagonicum Petr. showed 2n=4x=68 chromosome numbers. The chromosomes of the examined taxa predominantly have median region (m) and rarely median point (M) and submedian region (sm) karyotypes. The chromosome number and morphology of Cirsium sipyleum, C. pubigerum var. paphlagonicum, C. leucopsis and C. libanoticum subsp. arachnoideum are newly reported in the present study.

Chromosome numbers and karyotype features of Phlomis olivieri Benth. (Lamiaceae) from Iran

AbstractChromosome numbers were determined in ten accessions ofPhlomis olivieriBenth. (Lamiaceae). The seeds were collected from natural habitats in the west of Iran. Chromosome numbers of all accessions were 2n=2x=20. The chromosomes of accessions were metacentric or submetacentric, ranging in length from 2.66 to 8.604 μm. According to the average values of ten accessions, the karyotype of this species consists of 10 pairs of metacentric chromosomes. An ideogram was depicted for the species. This is the first report on the chromo-some number and karyotype analysis ofP. olivierifrom Iran.

Non-invasive prenatal testing in detecting sex chromosome aneuploidy: A large-scale study in Xuzhou area of China

BackgroundCell-free fetal DNA are widely used in the prenatal genetic testing during recent years. In the present study, we tried to investigate the clinical practical feasibility of non-invasive prenatal testing (NIPT) for prenatal sex chromosome aneuploidy (SCA) analysis among pregnancies in Xuzhou area of China. MethodsAmong a cohort of 8384 pregnancies, maternal plasma samples from our prenatal diagnosis center was subject to the analysis for SCA using NIPT detection. The cases with positive screening results by NIPT detection were validated on karyotyping analysis. ResultsFrom 8384 clinical pregnancies, 64 cases exhibited abnormal results detected by NIPT, in which 34 cases were false positive verified by amniotic fluid puncture and chromosome karyotyping analysis. Twelve positive Turner syndrome (monosomy X) cases in NIPT was confirmed to be sex chromosome abnormal by karyotyping analysis, in which included 9 cases of monosomy X, 1 case of mosaic (45X/47XXX), and 2 cases of mosaic with 45X/45XY karyotype. Of those 9 cases with 47XXX, 5 cases were found to be true positive. Among the ten cases of Klinefelter's syndrome (47XXY) indicated by NIPT, 6 cases (60%) were true positive. Lastly, NIPT indicated 47XYY in 9 cases. Karyotyping analysis found six cases were 47XYY, and one case was mosaic (46XY/47XYY). ConclusionOur findings showed that the true positive rate for monosomy X was lower by NIPT detection, while prediction of other SCA was relatively accurate. Therefore, NIPT could be a potential method for SCA screening, while this technique needed to be further investigated.

Study on relationship between Set gene expression and clinical manifestations in bone marrow of patients with acute myelogenous leukemia

Objective: To explore the expression and significance of Set gene in Acute myeloid leukemia (AML) patients , and to analyze its effect for the prognosis of AML. Methods: The level of Set gene expression was detected by real-time PCR in 59 AML patients and 20 heathy people. The mutations in C-kit 8/17 gene, NPM1 gene and FLT3-TKD/ITD gene in 59 AML patients were detected by direct sequencing. Results: The level of Set gene expression[1.41(0.41-3.31)]was significantly higher in 59 AML patients.The expression of Set gene was correlated with the percentage of marrow blasts and CR in AML patients (P=0.040, P<0.001); the CR rate of Set gene high expression group was significantly lower than that of Set gene low expression group(32.1% vs 83.9%, P=0.01). In the intermediate-risk of AML patients with chromosome karyotype analysis, the CR rate of Set gene high expression group and low expression group were 34.8% and 88.9%, and there are significantly different between two groups(P<0.001); univariate and multivariate analysis showed that Set gene high expression group correlated with poor OS[4(2-15)months]and EFS[3(2-13)months])(P=0.021, P=0.017). It suggests that the Set gene maybe one of AML independent poor prognostic marker.The level of Set gene expression did not correlate with sex, age, WBC, HGB, PLT, FAB typing, chromosomal karyotype and NPM1, C-Kit8/17, CEBPa, FLT3-ITD/TKD gene mutations in AML patients(all P>0.05). Conclusions: The level of Set gene expression in bone marrow maybe play an important role in AML. The high expression of Set gene indicates poor prognosis in AML patients.

Analysis of Chromosome Karyotype and Banding Patterns of Chicken, Quail, and Their Hybrids

Analysis of Chromosome Karyotype and Banding Patterns of Chicken, Quail, and Their Hybrids