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Quoted phrase not found in phrase index: "Mosaic variegated aneuploidy syndrome 3"
Page 1
High risk of malignancy in mosaic variegated aneuploidy syndrome.
Jacquemont S, Bocéno M, Rival JM, Méchinaud F, David A. Jacquemont S, et al. Am J Med Genet. 2002 Apr 15;109(1):17-21; discussion 16. doi: 10.1002/ajmg.10281. Am J Med Genet. 2002. PMID: 11932988 Review.
We describe here a young boy in whom MVA syndrome is associated to myelodysplasia with a monosomy 7 bone marrow clone. At the age of 3 years, myelodysplasia progressed to an acute lymphoblastic leukemia, and the patient died soon after. ...MVA with hematological findings h …
We describe here a young boy in whom MVA syndrome is associated to myelodysplasia with a monosomy 7 bone marrow clone. At the age of 3 …
A case report of a fetus with mosaic autosomal variegated aneuploidies and literature review.
Cho CH, Oh MJ, Lim CS, Lee CK, Cho Y, Yoon SY. Cho CH, et al. Ann Clin Lab Sci. 2015 Winter;45(1):106-9. Ann Clin Lab Sci. 2015. PMID: 25696020 Review.
Ultrasonography at 21 weeks' gestation revealed relatively small head circumference for gestational age (<3%) and vermis defect, suggesting that the fetus would have microcephaly and Dandy-Walker malformation. ...
Ultrasonography at 21 weeks' gestation revealed relatively small head circumference for gestational age (<3%) and vermis defect, s …
Nearly a third of abnormalities found after first-trimester screening are different than expected: 10-year experience from a single center.
Alamillo CM, Krantz D, Evans M, Fiddler M, Pergament E. Alamillo CM, et al. Prenat Diagn. 2013 Mar;33(3):251-6. doi: 10.1002/pd.4054. Epub 2013 Jan 27. Prenat Diagn. 2013. PMID: 23354915
Means, screen positive rates, detection rates, and predictive values were calculated for Down syndrome and trisomies 13/18. RESULTS: Of the 23 329 first-trimester screenings, 6.3% were screen positive: 5.7% for Down syndrome only, 0.4% for trisomies 13/18 only, and 0.3 …
Means, screen positive rates, detection rates, and predictive values were calculated for Down syndrome and trisomies 13/18. RESULTS: Of the …
The detection of mosaicism by prenatal BoBs™.
Cheng YK, Wong C, Wong HK, Leung KO, Kwok YK, Suen A, Wang CC, Leung TY, Choy KW. Cheng YK, et al. Prenat Diagn. 2013 Jan;33(1):42-9. doi: 10.1002/pd.4006. Epub 2012 Nov 20. Prenat Diagn. 2013. PMID: 23168997
The overall sensitivity of BoBs in detecting mosaicism is 44.4% (8/18), which is slightly higher than that of QF-PCR (33.3%; 6/18). CONCLUSION: Prenatal BoBs has a sensitivity of 57.1% in the detection clinical mosaic cases. ...
The overall sensitivity of BoBs in detecting mosaicism is 44.4% (8/18), which is slightly higher than that of QF-PCR (33.3%; 6/18). C …
Molecular detection of cryptic Y-chromosomal material in patients with Turner syndrome.
Cortés-Gutiérrez EI, Herrera-Bartolo R, Dávila-Rodríguez MI, Palacios-Saucedo GC, Vargas-Villarreal J, Romero-Villarreal JB. Cortés-Gutiérrez EI, et al. Oncol Rep. 2012 Oct;28(4):1205-10. doi: 10.3892/or.2012.1916. Epub 2012 Jul 16. Oncol Rep. 2012. PMID: 22824904
Clinical assessment, endocrine evaluation, karyotyping, FISH and PCR analysis of the Y-chromosomal loci were performed. We found that 9.4% (3 out of 32) patients with TS had Y-chromosome material. Two patients showed Y-chromosome by conventional cytogenetics. ...
Clinical assessment, endocrine evaluation, karyotyping, FISH and PCR analysis of the Y-chromosomal loci were performed. We found that 9.4% ( …
Confirmation of the reported association of clonal chromosomal mosaicism with an increased risk of incident hematologic cancer.
Schick UM, McDavid A, Crane PK, Weston N, Ehrlich K, Newton KM, Wallace R, Bookman E, Harrison T, Aragaki A, Crosslin DR, Wang SS, Reiner AP, Jackson RD, Peters U, Larson EB, Jarvik GP, Carlson CS. Schick UM, et al. PLoS One. 2013;8(3):e59823. doi: 10.1371/journal.pone.0059823. Epub 2013 Mar 22. PLoS One. 2013. PMID: 23533652 Free PMC article.
Though only 9.5% of clonal mosaic carriers had an incident diagnosis of hematologic cancer (multiple myeloma, myelodysplastic syndrome, lymphoma, or leukemia), the carriers had a 5.5-fold increased risk (95% CI: 3.3-9.3; p-value = 7.510(-11)) of developing th …
Though only 9.5% of clonal mosaic carriers had an incident diagnosis of hematologic cancer (multiple myeloma, myelodysplastic syndrome, lymp …
Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?
Pezzani L, Pezzoli L, Pansa A, Facchinetti B, Marchetti D, Scatigno A, Lincesso AR, Perego L, Pingue M, Pellicioli I, Migliazza L, Mangili G, Galletti L, Giussani U, Bonanomi E, Cereda A, Iascone M. Pezzani L, et al. Mol Genet Genomic Med. 2020 Mar;8(3):e1064. doi: 10.1002/mgg3.1064. Epub 2020 Jan 14. Mol Genet Genomic Med. 2020. PMID: 31943948 Free PMC article.
RESULTS: WES detected two different homozygous variants, one in CEP57, the gene responsible for mosaic variegated aneuploidy syndrome 2, the other in DYNC2H1, the main gene associated with short-rib thoracic dysplasia. ...
RESULTS: WES detected two different homozygous variants, one in CEP57, the gene responsible for mosaic variegated aneuploid …
Mitotic stability of small supernumerary marker chromosomes: a study based on 93 immortalized cell lines.
Spittel H, Kubek F, Kreskowski K, Ziegler M, Klein E, Hamid AB, Kosyakova N, Radhakrishnan G, Junge A, Kozlowski P, Schulze B, Martin T, Huhle D, Mehnert K, Rodríguez L, Ergun MA, Sarri C, Militaru M, Stipoljev F, Tittelbach H, Vasheghani F, de Bello Cioffi M, Hussein SS, Fan X, Volleth M, Liehr T. Spittel H, et al. Cytogenet Genome Res. 2014;142(3):151-60. doi: 10.1159/000360776. Epub 2014 Apr 1. Cytogenet Genome Res. 2014. PMID: 24714101 Free article.