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Quoted phrase not found in phrase index: "Mosaic variegated aneuploidy syndrome 4"
Page 1
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
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% 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 o …
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
Three cases (16.7%) were detected by prenatal BoBs but missed by QF-PCR, whereas QF-PCR detected one case that was missed by BoBs. 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). ...
Three cases (16.7%) were detected by prenatal BoBs but missed by QF-PCR, whereas QF-PCR detected one case that was missed by BoBs. The overa …
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.
The genotypes were initially collected from DNA derived from peripheral blood of 12,176 participants in the Group Health electronic Medical Records and Genomics study (eMERGE) and the Women's Health Initiative (WHI). We detected clonal mosaicism in 169 individuals (1.4%) a …
The genotypes were initially collected from DNA derived from peripheral blood of 12,176 participants in the Group Health electronic Medical …
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.
The resulting phenotype may be clinically discerned as variability in the expression of a known phenotype, or as a new unreported syndromic condition. METHODS: Trio-WES was performed on a 4-month-old baby with a complex clinical presentation characterized by skeletal anoma …
The resulting phenotype may be clinically discerned as variability in the expression of a known phenotype, or as a new unreported syndromic …
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 …
Prenatal detection of del(10)(q11.2) mosaicism in chorionic villus specimens likely caused by a common chromosomal fragile site FRA10G is associated with a normal phenotype.
Liao J, Sathanoori M, Yatsenko SA, Hu J, Kochmar SJ, Hoffner L, Hogge WA, Surti U. Liao J, et al. Prenat Diagn. 2012 Dec;32(12):1166-9. doi: 10.1002/pd.3977. Epub 2012 Sep 26. Prenat Diagn. 2012. PMID: 23015528
A common fragile site, FRA10G is located at the breakpoint region. The level of mosaicism ranged from 4% to 25%. No evidence of mosaic 10q11.2 deletion was found in follow-up amniocentesis, maternal peripheral blood cells, or from cytogenetic studies of other pregnancies f …
A common fragile site, FRA10G is located at the breakpoint region. The level of mosaicism ranged from 4% to 25%. No evidence of mosai …