• Confirmation of mosaicism and uniparental disomy in amniocytes, after detection of mosaic chromosome abnormalities in chorionic villi. (thieme-connect.com)
  • Background Mosaicism for chromosomal structural abnormalities, other than marker or ring chromosomes, is rarely inherited. (elsevierpure.com)
  • We propose that ITS could mediate recurring revertant mosaicism for some constitutional chromosomal structural abnormalities. (elsevierpure.com)
  • When the presence of chromosomal abnormalities occurs differentially within an individual, it is called chromosomal mosaicism . (wikidoc.org)
  • CentoNIPT offers genetic, non-invasive prenatal testing (NIPT) to screen for the most common fetal chromosomal abnormalities. (centogene.com)
  • With CentoNIPT CENTOGENE Now Offers Non-Invasive Prenatal Testing That Provides a Fast and Accurate Screen for the Most Common Prenatal Chromosomal Abnormalities. (centogene.com)
  • NACE is a non-invasive prenatal screening test for the most frequent chromosomal abnormalities. (igenomix.net)
  • False non-invasive prenatal screening (NIPT) results: fetoplacental mosaicism, maternal chromosomal abnormalities, vanishing twin syndrome and/or errors associated with the procedures. (igenomix.net)
  • Background: The present study offers our contribution on the topic by a retrospective analysis of the prevalence of chromosomal abnormalities in a population of Iranian infertile men attending assisted reproduction programs. (ijfs.ir)
  • Results: Chromosomal abnormalities were observed in 136(15.5%) individuals of the whole population studied including 12.0 %, 1.2 % and 2.0% of azoospermic, oligozoospermic and patients with low sperm quality, respectively. (ijfs.ir)
  • We suggested that type of chromosomal abnormalities had an inverse relation to sperm count. (ijfs.ir)
  • Chromosomal abnormalities are a major cause of male infertility. (ijfs.ir)
  • Chromosomal Abnormalities in Iranian Infertile Males who are Candidates for Assisted Reproductive Techniques', International Journal of Fertility and Sterility , 1(2), pp. 75-78. (ijfs.ir)
  • Lebedev I.N. The structure of chromosomal abnormalities in the cycles of IVF-PGD // Medical Genetics. (tnimc.ru)
  • Results of preimplantation genetic screening on human embryos offer new hope for treatment of recurrent miscarriage in chromosomal translocation carriers. (preimplantationgeneticdiagnosis.eu)
  • Methods We performed cytogenetics studies and breakpoint analyses on a family with transmission of mosaicism for a derivative chromosome 8 (der(8)), resulting from an unbalanced translocation between the long arms of chromosomes 8 and 21 over three generations. (elsevierpure.com)
  • Although aCGH followed by frozen embryo transfer has been used to screen at risk embryos (e.g., known parental chromosomal translocation or history of recurrent pregnancy loss), this is the first description of aCGH fully integrated with a clinical IVF program to select single blastocysts for fresh SET in good prognosis patients. (biomedcentral.com)
  • According to Mustachi & Peres 4 , the Down Syndrome may be caused by three types of chromosomal changes: Free trisomy, mosaicism and translocation. (bvsalud.org)
  • 11. Zhigalina D.I., Skryabin N.A., Vasilieva O.Y., Lopatkina M.E., Vasiliev S.A., Sivokha V.M., Belyaeva E.O., Savchenko R.R., Nazarenko L.P., Lebedev I.N. FISH diagnostics of chromosomal translocation with the technology of synthesis of locus-specific DNA probes based on long-range PCR// Russian Journal of Genetics. (tnimc.ru)
  • Aneuploidy is defined as the loss and/or gain of chromosomes to produce a numerical deviation from multiples of the haploid chromosomal complement ( King and Stansfield, 1990 ). (jneurosci.org)
  • The two cell lines have differences involving the chromosomes (chromosomal mosaicism). (skincarehealthcenter.com)
  • Aneuploidy is a change in the number of chromosomes that can lead to a chromosomal disorder . (wikidoc.org)
  • 5. Vasiliev S.A., Urazova A.S., Nikitina T.V., Sazhenova E.A., Tolmacheva E.N., Agab A.V., Zhigalina D.I., Lebedev I.N. The frequency of the loss of chromosomal fragments or entire chromosomes in fibroblasts, extraembryonic mesoderm of spontaneous abortions with aneuploidy and triploidy // Medical Genetics. (tnimc.ru)
  • In the process, chromosomal fusions occurred in the equidae, causing karyotypes to evolve that range from 66 to 32 chromosomes, whilst preserving the same amount of DNA. (ivis.org)
  • Multicolour FISH detects frequent chromosomal mosaicism and chaotic division in normal preimplantation embryos from fertile patients. (biomedcentral.com)
  • Thanks to PGD, it is possible to avoid the transfer of embryos with genetic or chromosomal alterations and, in this way, increase the probability of having a healthy child . (invitra.com)
  • Depending on whether genetic or chromosomal alterations are to be detected, the techniques for analyzing the DNA of the embryos will be different. (invitra.com)
  • 35, no prior miscarriage) and normal karyotype seeking elective SET were prospectively randomized into two groups: In Group A, embryos were selected on the basis of morphology and comprehensive chromosomal screening via aCGH (from d5 trophectoderm biopsy) while Group B embryos were assessed by morphology only. (biomedcentral.com)
  • As a treatment paradigm in routine IVF, PGT-A mandates cumulative add-ons with their own independent potential to adversely impact IVF outcomes, such as extended blastocyst culture, embryo cryopreservation, frozen embryo transfer and disposal of what the procedure reports as chromosomal-abnormal embryos. (biomedcentral.com)
  • Two cases of trisomy 12 were reported in a large study of chromosomal mosaicism detected on CVS. (bcchr.ca)
  • Recent data suggest that chromosome mosaicism is a possible mechanism for intrauterine and postnatal survival in cases of trisomy 18 and Turner syndrome (45X). (nih.gov)
  • The aim of this study was to evaluate if chromosomal mosaicism is a possible mechanism of survival in Down syndrome (DS) (trisomy 21) individuals. (nih.gov)
  • The presence of a congenital anomaly is associated with increased childhood cancer risk, likely due to large effects of Down syndrome and chromosomal anomalies for leukemia. (plos.org)
  • The best known chromosomal disease is Down syndrome. (invitra.com)
  • Results The proband and his maternal half-sister had mosaicism for a der(8) cell line leading to trisomy of the distal 21q, and both had Down syndrome phenotypic features. (elsevierpure.com)
  • In a 2016 publication in 'Prenatal Diagnosis', scientists at ARCEDI, among others, described an improved method of enriching fetal cells and used 1-2 fetal cells to perform chromosomal and subchromosomal testing without invasive sampling. (arcedi.com)
  • Mosaicism, partial trisomy, translocations and other related chromosomal disorders are variable phenotypes of a full trisomy. (trisomy.org)
  • The accuracy of chromosomal microarray testing for identification of embryonic mosaicism in human blastocysts. (thieme-connect.com)
  • Chromosomal mosaicism in human blastocysts : the ultimate challenge of preimplantation genetic testing? (ugent.be)
  • When the intended parents, or at least one of them, have their karyotype altered (chromosomal testing) due to the presence of a chromosomal abnormality, such as translocations or chromosome inversions. (invitra.com)
  • Conventional prenatal testing for fetal chromosomal abnormality involves either chorionic villus sampling or amniocentesis. (centogene.com)
  • Together, these data demonstrate that human brain cells (both neurons and non-neuronal cells) can be aneuploid and that the resulting genetic mosaicism is a normal feature of the human CNS. (jneurosci.org)
  • Some researchers believe that hypomelanosis of Ito does not represent a distinct disorder but rather a symptom common to a group of disorders involving genetic mosaicism. (skincarehealthcenter.com)
  • Many cases are associated with genetic mosaicism and sporadic gene mutations. (skincarehealthcenter.com)
  • Genetic mosaicism is the term for individuals who have two distinct cell lines in the body that developed because of a gene mutation that occurred during embryonic development. (skincarehealthcenter.com)
  • The pre- and postnatal genetic tests (noninvasive prenatal testing, array comparative genomic hybridization, karyotype in amniotic fluid cells, karyotype in peripheral blood, and uniparental disomy analysis) revealed the fetal chromosomal status and indicated etiology giving rise to the mosaicism, suggesting a prezygotic meiotic error corrected through late trisomic rescue in the zygote. (thieme-connect.com)
  • Conclusion: We observed high frequency of aneuploidy and sex chromosomal mosaicism in azoospermic men and high structural aberrations in males with low sperm quality. (ijfs.ir)
  • So that, high chromosomal aneuploidy was detected in males with lower sperm count and high structural aberration was detected in males with low sperm quality. (ijfs.ir)
  • Methods: During a period of 6 months, chromosomal microarray was carried out on DNA extracted from 100 uncultured chorion villous samples from high-risk pregnancies. (aau.dk)
  • Conclusion: Chromosomal microarray can detect placental mosaicism for structural chromosomal aberrations. (aau.dk)
  • These findings highlight the complexity of mosaicism for structural chromosomal aberrations in prenatal samples in the chromosomal microarray era. (aau.dk)
  • Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. (nih.gov)
  • Results: In five of 100 consecutively collected samples (5/100), mosaicism for a structural chromosomal aberration was detected. (aau.dk)
  • Objective: Placental mosaicism for a subset of a chromosome, a structural chromosomal aberration, is thought to be a very rare finding in chorionic villus samples. (aau.dk)
  • The pregnancy loss rate in pregnancies with confined placental mosaicism, diagnosed by chorionic villus sampling, is higher than among pregnancies without placental mosaicism. (wikipedia.org)
  • Chorionic villus sampling (CVS) is one of the invasive diagnostic methods used to diagnose chromosomal, genetic, and metabolic diseases in the embryonic period. (advbiores.net)
  • It is not an inherited disorder since the chromosomal defect occurs after conception. (doctorhoogstra.com)
  • Here, we present clinical and laboratory data on five cases with such mosaicism for structural chromosomal aberrations. (aau.dk)
  • Because the exact genomic position is known, aberrations can also be mapped directly onto the chromosomal location. (mlo-online.com)
  • In 20 cases of trisomy 21, two tissues were studied and mosaicism was not detected in either of the two tissues in 15 cases. (nih.gov)
  • 4. Scryabin N.A., Zhigalina D.I., Artyukhova V.G., Svetlakov A.V., Lebedev I.N. Informative blastocentesis in the evaluation of chromosomal mosaicism in the blastocyst stage // Medical Genetics. (tnimc.ru)
  • unbalanced structural rearrangement, or mosaicism", cases with smaller copy number variations in the fetal genome detected on circulating fetal cells isolated from maternal blood were presented. (arcedi.com)
  • Confined placental mosaicism (CPM) represents a discrepancy between the chromosomal makeup of the cells in the placenta and the cells in the fetus. (wikipedia.org)
  • Disorders/differences in sex development (DSD) are defined as congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical. (eurospe.org)
  • To rule out tissue specific mosaicism, buccal cells or amniocytes were analysed in addition to blood in 20 DS cases. (nih.gov)
  • Rapid diagnosis of pseudomosaicism in a case of Level II mosaicism for trisomy 5 in a single colony from an in situ culture of amniocytes and a review of mosaic trisomy 5 at amniocentesis. (thieme-connect.com)
  • 3] Some of the indications for this test include diagnosis of chromosomal, genetic, and metabolic disorders following positive screening tests or positive family history, high maternal age, and sonographic findings. (advbiores.net)
  • Diagnostic tests are indicated when conditions that increase the risk of chromosomal anomaly are present or suspected (eg, advanced maternal age, suggestive fetal ultrasonographic findings). (medscape.com)
  • Mosaicism for a cell line with the der(8) and a normal cell line was also detected in a maternal half-cousin. (elsevierpure.com)
  • Less is known about associations with presence of non-chromosomal anomalies. (plos.org)
  • Increasing number of non-chromosomal anomalies was associated with a stronger risk of childhood cancer (OR for 3+ anomalies: 3.11, 95% CI: 1.54-6.11). (plos.org)
  • Although central nervous system (CNS) anomalies were associated with CNS tumors (OR: 6.05, 95% CI 2.75-13.27), there was no strong evidence of other non-chromosomal anomalies being specifically associated with cancer occurring in the same organ system or anatomic location. (plos.org)
  • Non-chromosomal anomalies increased risk of several cancer types. (plos.org)
  • Additionally, we found that increasing number of non-chromosomal anomalies was associated with a stronger risk of cancer. (plos.org)
  • Birth defects are generally categorized as chromosomal or non-chromosomal anomalies. (plos.org)
  • 1 ] The role of chromosomal anomalies on childhood cancer risk has been described. (plos.org)
  • 4 ] Four recent population-based registry linkage studies in the United States (U.S.)[ 2 , 5 - 7 ] suggest that children with non-chromosomal anomalies may also be more likely to develop cancer compared to their unaffected contemporaries. (plos.org)
  • 1997) European collaborative research on mosaicism in CVS (EUCROMIC)--fetal and extrafetal cell lineages in 192 gestations with CVS mosaicism involving single autosomal trisomy. (bcchr.ca)
  • Mostly, the causes are autosomal and sex chromosomal nondisjunction . (wikidoc.org)
  • The reversion of the inherited der(8) to a normal chromosome 8 in this family resembles revertant mosaicism of point mutations. (elsevierpure.com)
  • This kind of mosaicism may be more frequent than previously anticipated, and the fetal involvement seems difficult to predict. (aau.dk)
  • Screening tests screen for various fetal metabolic, chromosomal, and anatomic defects. (medscape.com)
  • These results suggest that mechanism(s) other than mosaicism may exist for the intrauterine and postnatal survival of DS cases. (nih.gov)
  • Chromosomal or plasmid location of widespread mechanism of antimicrobial drug resistance. (cdc.gov)
  • Hypomelanosis of Ito is a pigmentary mosaicism characterized by a clone of skin cells with decreased ability to produce pigment. (medscape.com)
  • There are three types of confined placental mosaicism depending on the cells involved at the time of the error: Type 1 CPM- The error occurs in a trophoblast cell, and thus only trophoblast cells are affected. (wikipedia.org)
  • Mosaicism occurs in about 2% of cases (post-zygotic non-disjunction or more rarely from trisomic rescue). (cdc.gov)
  • Abnormal karyotype - approximately 95% of cases result from chromosomal non-disjunction of chromosome 21 (47,XX,+21 or 47,XY,+21) at conception. (cdc.gov)
  • Normal response was observed after 60, 90 and 120 minutes (0.39, 0.36, 31.4, 19.0 and 14.1 mIU/L at 0, 30, 60, 90 and 120 minutes respectively) (normal range for females 0.4-26.7 mIU/L). Chromosomal study using peripheral blood and trypsin G banding was normal for both this child and her parents. (who.int)
  • If genetic and/or chromosomal testing are considered, these should be coordinated with genetic counseling and/or someone who is conducting research on this disease. (medscape.com)
  • Mosaicism at prenatal level constitutes a challenge in genetic counseling, particularly in the case of mosaic trisomy 5, due to its low incidence. (thieme-connect.com)
  • A mosaic trisomy is a condition where extra chromosomal material exists in only some of the organism's cells. (wikidoc.org)
  • Level of mosaicism: There is a correlation between a high number of aneuploid cells detected at CVS with poor pregnancy progress. (wikipedia.org)
  • This study explored use of comprehensive chromosomal screening by array CGH (aCGH) to provide this advantage and improve pregnancy rate from SET. (biomedcentral.com)
  • Mosaicism was studied by interphase fluorescence in-situ hybridization (FISH), using a specific probe for chromosome 21 (21q22.13-21q22.2) in 78 cases suspected of DS. (nih.gov)
  • 1997) summarized findings in 23 cases of trisomy 12 mosaicism detected in amniotic fluid--20 of which were female and only three were male. (bcchr.ca)
  • A bias towards females has been noted in other cases of trisomy mosaicism (e.g. trisomy 16) and suggests either preferential survival of female mosaics or a greater tendency to mosaicism in females. (bcchr.ca)
  • 2000) reported a case of trisomy 12 diagnosed in a newborn and summarized results for 4 other cases of trisomy 12 mosaicism diagnosed postnatally. (bcchr.ca)
  • 1995) Mosaicism for trisomy 12: four cases with varying outcomes. (bcchr.ca)
  • However, in many cases the condition arises from genetic irregularities that are present in some cells of the body, but not in others (mosaicism). (skincarehealthcenter.com)
  • sSMC can present with different shapes (ring-, centric minute- and inverted duplication-shape), and consist in the majority of the cases of pericentric chromosomal material. (biomedcentral.com)
  • Here the yet reported 412 complex sSMC cases are summarized based on the sSMC database ( http://www.fish.uniklinikum-jena.de/sSMC.html , [ 3 ]) and analyzed for their chromosomal constitution, breakpoints and special features. (biomedcentral.com)
  • Whole-genome sequencing of A. pleuronectes reveals highly conserved chromosomal macrosynteny and microsynteny, suggestive of a highly contracted but not degenerated genome. (big.ac.cn)
  • Most pregnancies that are diagnosed with confined placental mosaicism continue to term with no complications and the children develop normally. (wikipedia.org)
  • Chromosomal mosaicism is defined as the presence of two or more different cell lines in an organism that originate from the same embryo. (thieme-connect.com)
  • Mosaicism is a condition in which cells within the same person have a different genetic makeup. (medlineplus.gov)
  • Conclusion Mosaicism in the proband, his half-sister and half-cousin resulting from loss of chromosome 21 material from the der(8) appears to be a postzygotic event due to the genomic instability of ITS and associated with selective growth advantage of normal cells. (elsevierpure.com)
  • This type of mosaicism is described in normal pregnancies and is sometimes associated with delayed growth of the fetus. (wikipedia.org)
  • This type of mosaicism is more commonly associated with delayed growth in the fetus. (wikipedia.org)