We identify six new positive cases of Down syndrome, two genetically female and four genetically male. As expected, the positive cases for Down syndrome showed an approximately 1.5-fold higher proportion of reads mapping to chromosome 21 (range: 1.44–1.52) when compared to the mean proportion fo...
A total of 35 samples showed UPD at a ratio of about 6:1 (6 matUPD: 1 patUPD). Mainly are UPD of a section of chromosome (segmental UPD) for chromosomes 7, 13, 14, 16, 18, 20, 21 and 22 or for the entire chromosome for chromosome 21. Most cases of UPD found on chromosomes...
Risk of trisomy 21 was calculated from the maternal age and gestational-age-related prevalence, multiplied by a likelihood ratio depending on the deviation from normal in nuchal-translucency thickness for crown-rump length. The distribution of risks was investigated and the sensitivity of a cut-off...
Two patients with full trisomy of(16)(pter~p13) due to familial trans- location were reported in the literature; one was born underweight (birthweight at term 2,280 g [11] while the other had a birthweight within the normal range (3,300 g at term) [12]. Our propositus has both ...
2k and l). These results preliminarily suggested that parental aneuploidy affects the gene transcription of normal individuals in the offspring. Fig. 2 Ratio distribution of gene expression levels of parental and filial of aneuploid compared with diploid. a–d The distribution of gene expression ...
Based on this risk, the couple elected to have confirmatory NIPT at 16 weeks. Chromosome (Chr) z-scores were 0.62 (Chr21),−0.27 (Chr18) and 0.016 (Chr13), all within the normal z-score range (−3 < z < 3). However, the z-score for Chr9 (12.92) was outside the...
Based on this risk, the couple elected to have confirmatory NIPT at 16 weeks. Chromosome (Chr) z-scores were 0.62 (Chr21),−0.27 (Chr18) and 0.016 (Chr13), all within the normal z-score range (−3 < z < 3). However, the z-score for Chr9 (12.92) was outside the...
In addition to the negative regulation of IFNG and NFκB, our cytokine data demonstrated that apigenin treatment normalized the ratio of IL12P70 (IL12)/IL12P40 by lowering production of the pro-inflammatory cytokine IL12P70 and increasing production of the anti-inflammatory cytokine IL12P40 in ...
1), compared with 0.12% (1/83 cells) in the normal control. aCGH analysis on uncultured amniocytes revealed a result of arr 13q12.11q34 (20,407,323–115,092,619)×2.1 with a log2 ratio of 0.06 compatible with a 10% level of mosaicism. Polymorphic DNA marker analysis excluded ...
There is currently a wide range of ages at which the primary repair is performed for isolated CAVC. Trisomy 21 does not appear to be an independent risk factor for surgical outcome [14]. Age at repair has also not been found to increase the risk of residual VSDs, left-sided ...