scholarly journals Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14

2012 ◽  
Vol 2012 ◽  
pp. 1-4
Author(s):  
Javier Sánchez ◽  
Lutgardo García-Díaz ◽  
David Chinchón ◽  
Guillermo Antiñolo
Keyword(s):  
Prenatal Diagnosis ◽  
Cell Line ◽  
Ring Chromosome ◽  
Chromosomal Mosaicism ◽  
Chromosome 14 ◽  
Igh Locus ◽  
First Case ◽  
A Cell ◽  
Insight Into ◽  
Facial Dysmorphia

Monosomy of chromosome 14 has been reported in only a few prenatal cases. Generally, this monosomy is associated with a mosaicism of ring chromosome 14. Ring chromosome 14 is a rare cytogenetic entity with clinical characteristics that include growth retardation, facial dysmorphia, hypotonia, seizures, and retinitis pigmentosa. Given that the majority of symptoms appear postnatally, few cases have been reported of prenatal diagnosis of mosaicism monosomy/ring chromosome 14. We describe the prenatal diagnosis of a case of chromosomal mosaicism, a cell line with ring chromosome 14, r(14), and a second cell line with monosomy 14, in a fetus with aortic coarctation and chamber asymmetry. This is the first case of a prenatal diagnosis associating mosaicism with ring chromosome 14, monosomy 14, and fetal cardiopathy. We identified the exact breakpoint in ring chromosome 14 in IGH locus, which may provide further insight into the mode of ring formation as well as prenatal findings.

scholarly journals Ring Chromosome 14 Syndrome: Prenatal diagnosis of two cases with 45,XY,-14/46,XY,r(14)(p11.2q32)

2000 ◽  
Vol 2 (1) ◽  
pp. 94-94
Author(s):  
R T Schmidt ◽  
J B Ravnan ◽  
A N Lamb ◽  
M E Weinstein
Keyword(s):  
Prenatal Diagnosis ◽  
Ring Chromosome ◽  
Chromosome 14

Prenatal diagnosis of a ring chromosome 14 in a fetus with a severe skeletal dysplasia

2008 ◽  
Vol 28 (1) ◽  
pp. 69-71 ◽  
Author(s):  
Geneviève Quenum-Miraillet ◽  
Valérie Malan ◽  
Jelena Martinovic ◽  
Férechté Encha-Razavi ◽  
Bernard Aral ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Skeletal Dysplasia ◽  
Ring Chromosome ◽  
Chromosome 14

Prenatal diagnosis of ring chromosome 14 after intracytoplasmic sperm injection

1997 ◽  
Vol 67 (1) ◽  
pp. 164-165 ◽  
Author(s):  
Miguel Jean ◽  
Jean-Marie Rival ◽  
Antoine Mensier ◽  
Sophie Mirallié ◽  
Patrice Lopes ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Intracytoplasmic Sperm Injection ◽  
Ring Chromosome ◽  
Chromosome 14

scholarly journals OCI-5/GPC3, a Glypican Encoded by a Gene That Is Mutated in the Simpson-Golabi-Behmel Overgrowth Syndrome, Induces Apoptosis in a Cell Line–specific Manner

1998 ◽  
Vol 141 (6) ◽  
pp. 1407-1414 ◽  
Author(s):  
Alfonso Dueñas Gonzalez ◽  
Mitsunori Kaya ◽  
Wen Shi ◽  
Howard Song ◽  
Joseph R. Testa ◽  
...  
Keyword(s):  
Cell Line ◽  
Cell Types ◽  
Glycosyl Phosphatidylinositol ◽  
Overgrowth Syndrome ◽  
3T3 Fibroblasts ◽  
Specific Manner ◽  
A Cell ◽  
Nih 3T3 ◽  
Insight Into ◽  
Mcf 7

OCI-5/GPC3 is a member of the glypican family. Glypicans are heparan sulfate proteoglycans that are bound to the cell surface through a glycosyl-phosphatidylinositol anchor. It has recently been shown that the OCI-5/GPC3 gene is mutated in patients with the Simpson-Golabi-Behmel Syndrome (SGBS), an X-linked disorder characterized by pre- and postnatal overgrowth and various visceral and skeletal dysmorphisms. Some of these dysmorphisms could be the result of deficient growth inhibition or apoptosis in certain cell types during development. Here we present evidence indicating that OCI-5/GPC3 induces apoptosis in cell lines derived from mesothelioma (II14) and breast cancer (MCF-7). This induction, however, is cell line specific since it is not observed in NIH 3T3 fibroblasts or HT-29 colorectal tumor cells. We also show that the apoptosis-inducing activity in II14 and MCF-7 cells requires the anchoring of OCI-5/GPC3 to the cell membrane. The glycosaminoglycan chains, on the other hand, are not required. MCF-7 cells can be rescued from OCI-5/GPC3–induced cell death by insulin-like growth factor 2. This factor has been implicated in Beckwith-Wiedemann, an overgrowth syndrome that has many similarities with SGBS. The discovery that OCI-5/GPC3 is able to induce apoptosis in a cell line– specific manner provides an insight into the mechanism that, at least in part, is responsible for the phenotype of SGBS patients.

Aberrant Type C Virus Production in a Cell Line Derived from Balb/3T3

1972 ◽  
Vol 30 ◽  
pp. 286-287
Author(s):  
N. Savage ◽  
A. Hackett
Keyword(s):  
Electron Microscopy ◽  
Cell Line ◽  
Leukemia Virus ◽  
Morphological Characteristics ◽  
Virus Production ◽  
Oncogenic Viruses ◽  
Endogenous Virus ◽  
Virus Particles ◽  
Moloney Leukemia Virus ◽  
A Cell

A cell line, UC1-B, which was derived from Balb/3T3 cells, maintains the same morphological characteristics of the non-transformed parental culture, and shows no evidence of spontaneous virus production. Survey by electron microscopy shows that the cell line consists of spindle-shaped cells with no unusual features and no endogenous virus particles.UC1-B cells respond to Moloney leukemia virus (MLV) infection by a change in morphology and growth pattern which is typical of cells transformed by sarcoma virus. Electron microscopy shows that the cells are now variable in shape (rounded, rhomboid, and spindle), and each cell type has some microvilli. Virtually all (90%) of the cells show virus particles developing at the cell surface and within the cytoplasm. Maturing viruses, typical of the oncogenic viruses, are found along with atypical tubular forms in the same cell.

Emulsion flow which preparation excludes a presence of mechanical impurities

2012 ◽  
Vol 9 (2) ◽  
pp. 118-122
Author(s):  
A.A. Rakhimov
Keyword(s):  
Cell Size ◽  
First Case ◽  
A Cell ◽  
Emulsion Flow ◽  
Blocking Mechanism

Experiments were carried out with waterhydrocarbon emulsions with various emulsifiers in capillaries with a length of 2 cm, diameters of 40 and 100 µm. To eliminate the influence of mechanical impurities comparable in size with the diameter of the capillary in first case emulsion components were filtered through fine-meshed filters. In second case obtained that way emulsion was additionally filtered through a system consisting of 3 filters with a cell size of 30-40 microns. In a capillary of 100 µm such emulsion came in a blocked state. Additional filtration of the emulsion through the mesh filters have led to an increase in viscosity but in 100 µm capillaries the time until the blocking 2-3 times more than the original. Rheology of used emulsions is well described by the model of Ostwald-de Waale. It was determined that emulsion blocking mechanism is due to the presence of inclusions not emulsion viscosity.

Establishment of a cell line (HCC-M) from a human hepatocellular carcinoma

1983 ◽  
Vol 32 (2) ◽  
pp. 141-146 ◽  
Author(s):  
Tetsu Watanabe ◽  
Toshio Morizane ◽  
Kanji Tsuchimoto ◽  
Yasutaka Inagaki ◽  
Yoshio Munakata ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Cell Line ◽  
Human Hepatocellular Carcinoma ◽  
A Cell

Chromosomal mosaicism: Origins and clinical implications in preimplantation and prenatal diagnosis

2021 ◽  
Vol 41 (5) ◽  
pp. 631-641 ◽  
Author(s):  
Brynn Levy ◽  
Eva R. Hoffmann ◽  
Rajiv C. McCoy ◽  
Francesca R. Grati
Keyword(s):  
Prenatal Diagnosis ◽  
Chromosomal Mosaicism ◽  
Clinical Implications

scholarly journals Integrated CNV-seq, karyotyping and SNP-array analyses for effective prenatal diagnosis of chromosomal mosaicism

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Na Ma ◽  
Hui Xi ◽  
Jing Chen ◽  
Ying Peng ◽  
Zhengjun Jia ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Sex Chromosome ◽  
Snp Array ◽  
Genomic Rearrangements ◽  
Chromosomal Mosaicism ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Low Level ◽  
Autosomal Aneuploidy ◽  
Number Variation

Abstract Background Emerging studies suggest that low‐coverage massively parallel copy number variation sequencing (CNV-seq) more sensitive than chromosomal microarray analysis (CMA) for detecting low-level mosaicism. However, a retrospective back-to-back comparison evaluating accuracy, efficacy, and incremental yield of CNV-seq compared with CMA is warranted. Methods A total of 72 mosaicism cases identified by karyotyping or CMA were recruited to the study. There were 67 mosaic samples co-analysed by CMA and CNV-seq, comprising 40 with sex chromosome aneuploidy, 22 with autosomal aneuploidy and 5 with large cryptic genomic rearrangements. Results Of the 67 positive mosaic cases, the levels of mosaicism defined by CNV-seq ranged from 6 to 92% compared to the ratio from 3 to 90% by karyotyping and 20% to 72% by CMA. CNV-seq not only identified all 43 chromosomal aneuploidies or large cryptic genomic rearrangements detected by CMA, but also provided a 34.88% (15/43) increased yield compared with CMA. The improved yield of mosaicism detection by CNV-seq was largely due to the ability to detect low level mosaicism below 20%. Conclusion In the context of prenatal diagnosis, CNV-seq identified additional and clinically significant mosaicism with enhanced resolution and increased sensitivity. This study provides strong evidence for applying CNV-seq as an alternative to CMA for detection of aneuploidy and mosaic variants.

scholarly journals Hypocalcemic cardiomyopathy after parathyroidectomy in a patient with uremia: A case report and literature review

2020 ◽  
Vol 48 (7) ◽  
pp. 030006052094211
Author(s):  
Wei Zhang ◽  
Feng Xue ◽  
Quandong Bu ◽  
Xuemei Liu
Keyword(s):  
Heart Failure ◽  
Case Report ◽  
Secondary Hyperparathyroidism ◽  
Calcium Supplementation ◽  
Severe Heart Failure ◽  
Cardiac Complications ◽  
Refractory Heart Failure ◽  
First Case ◽  
Insight Into

Hypocalcemia is a rare, but reversible, cause of dilated cardiomyopathy. Although cardiomyopathy may cause severe heart failure, calcium supplementation can reverse heart failure. We report here a patient with uremia and secondary hyperparathyroidism, who was complicated by persistent hypocalcemia and refractory heart failure. The cardiac failure was refractory to treatment with digitalis and diuretics, but dramatically responded to calcium therapy and restoration of normocalcemia. As a result, the patient was eventually diagnosed with hypocalcemic cardiomyopathy. To the best of our knowledge, this is the first case of this disease to be reported in a patient with uremia. Findings from our case may help clinicians to better understand hypocalcemic cardiomyopathy. Our case might also provide new insight into long-term cardiac complications and prognoses of patients undergoing parathyroidectomy due to secondary hyperparathyroidism.

Sign in / Sign up

Export Citation Format

Share Document