Patau syndrome

08/01/2011 - "When specific risk algorithms were added, the detection rates improved for trisomy 18 (74.0%) and for trisomy 13 (54.5%), with only a slight increase of the false-positive rate of 0.2%. "
01/01/2015 - "The aim of this study was to describe the communication ability of individuals with trisomy 18 and trisomy 13 syndromes. "
10/01/2013 - "This study is based on the largest data set on survival for live births with trisomy 18 and trisomy 13. "
10/01/2013 - "The aim of this study is to determine the survival of live births with trisomy 18 and trisomy 13 and their variants. "
12/01/2012 - "The purpose of this study was to assess communication abilities among a sample of 10 individuals with Trisomy 18 and Trisomy 13. "

12/01/2014 - "A significantly greater percent would consider termination of pregnancy following a diagnosis of trisomy 13 or 18 (52%) over one of trisomy 21 (44%). "
12/01/2012 - "The aim of this study was to measure the two frontomaxillo-facial (FMF) angles: the FMF-vomer (FMF-v) and the FMF-palate (FMF-p), and to visualize the vomer in the 1(st) and early 2(nd) trimester, in order to ascertain whether they can be used as markers for trisomy 21 and trisomy 13. "
06/01/2011 - "This study aimed to compare sFlt-1 expression in Trisomy 13 (n = 7) placentas with that in control placentas (Trisomy 21, n = 11, and euploid, n = 6). "
10/01/2008 - "The study analysed 116 cases of Patau syndrome, 240 cases of Edwards syndrome and 1084 cases of Down syndrome. "
12/01/2014 - "Two versions of a 25-item survey assessing interest in cffDNA and existing first-trimester combined screening for either trisomy 13 and 18 or trisomy 21 were distributed among 3,164 members of the United States public. "

06/01/2006 - "Trisomy 13 in a patient with acute myeloid leukemia M0 and unusual durable remission."
01/01/2015 - "Cytogenetically normal acute myeloid leukemia with a novel KIT mutation in exon 11 G565V developing a sole trisomy 13 at relapse: a clinical dilemma."
09/01/2009 - "We report here two cases of trisomy 13 in acute myeloid leukemia M1 subtype. "
08/15/2007 - "Trisomy 13 is strongly associated with AML1/RUNX1 mutations and increased FLT3 expression in acute myeloid leukemia."
01/01/2005 - "No correlation between trisomy 13 and FLT3 duplication in acute myeloid leukemia."

11/01/2012 - "Moreover, an improved detection in cases of trisomy 13 and triploidy was observed. "
11/01/2011 - "Different study designs and diverse treatment strategies greatly affect the fetal and neonatal outcome of fetuses with triploidy, trisomy 13, and 18. "
09/01/2014 - "Meanwhile the vast majority of trisomy 13 and 18 triploidy is detected using biochemical screening and ultrasound. "
11/01/2011 - "All cases with fetal diagnosis of triploidy, trisomy 13, and 18 were analyzed, with a focus on cases with natural outcome. "
06/01/2005 - "In trisomy 13 and triploidy, the small GSV may be due to early onset fetal growth restriction and reduced amniotic fluid volume. "

09/01/2011 - "(III-A) 4. Other technologies for the rapid detection of aneuploidy may replace QF-PCR if they offer a similar or improved performance for the detection of trisomy 13, 18, 21, and sex chromosome aneuploidy. "
01/01/2007 - "The aim of this study was to define the transcriptional changes in trisomy 13, 18, and 21 during early fetal development in order to obtain more insights into the molecular etiopathology of aneuploidy. "
03/01/2015 - "The true-positive rate was only 44% (7/16 cases) for trisomy 13 and 38% (6/16 cases) for sex chromosome aneuploidy. "
01/01/2015 - "Here, we describe the application of two different types of BoBs™ assays: (1) Prenatal BoBs (CE-IVD) to detect the most frequent syndromes associated with chromosome microdeletions, as well as the trisomy 13, 18 and 21, and (2) KaryoLite BoBs (RUO) which can detect aneuploidy in all chromosomes by quantifying proximal and terminal regions of each chromosomal arm. "
02/01/2014 - "Aneuploidy was confirmed in 73.5% of the cases; the commonest was trisomy 13 (50.0%). "