نتایج جستجو برای: trisomy 9
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سندرم Beckwith- Wiedemann یا Partial trisomy بازوی کوتاه کروموزوم شماره 11 سندرم بسیار نادری است که عوارضی از جملهMacroglossia ،Visceromegaly و... را با خود به همراه دارد. وقوع این عارضه در بیش از یک فرد در یک خانواده به ندرت گزارش شده است. در این مقاله، خواهر و برادری که به این سندرم مبتلا هستند و البته خواهر سالمی نیز دارد و 9 سال قبل تحت عمل جراحی Partial Golssectomy قرار گرفتهاند و اکنون ن...
Somatic and visceral growth profiles of midgestation human fetuses with trisomy 21, 18, or 13 demonstrate that each disorder has a characteristic pattern of growth aberration. The most striking deviations are short limbs in trisomy 21, subnormal adrenal and lung weights in trisomy 18, and supranormal spleen and kidney weights in trisomy 13.
Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population.
OBJECTIVE We sought to assess performance of noninvasive prenatal testing for fetal trisomy in a routinely screened first-trimester pregnancy population. STUDY DESIGN This was a cohort study of 2049 pregnant women undergoing routine screening for aneuploidies at 11-13 weeks' gestation. Plasma cell-free DNA analysis using chromosome-selective sequencing was used. Laboratory testing on a single...
Although it is clear that trisomy 21 causes Down syndrome, the molecular events acting downstream of the trisomy remain ill defined. Using complementary genomics analyses, we identified the interferon pathway as the major signaling cascade consistently activated by trisomy 21 in human cells. Transcriptome analysis revealed that trisomy 21 activates the interferon transcriptional response in fib...
Double aneuploidy in which an extra sex chromosome coexists with autosomal trisomy was first reported in a child with trisomy 21 and XXY sex chromosomes (Ford, Jones, Miller, Mittwoch, Penrose, Ridler, and Shapiro, 1959); since then XXX trisomy 21 (Day, Wright, Koons, and Quigley, 1963; Yunis, Hook, and Alter, 1964), XYY trisomy 21 (Verresen and van den Berghe, 1965), XXX trisomy 18 (Uchida and...
OBJECTIVE To measure changes in the posterior fossa of first-trimester fetuses with trisomy 18, trisomy 13 and triploidy. METHODS Brain stem (BS) diameter and BS to occipital bone (BSOB) diameter were measured in images of the midsagittal view of the face at 11(+0) to 13(+6) weeks from 45 trisomy 18, 21 trisomy 13 and 15 triploid fetuses and compared with values in 162 euploid fetuses. RESU...
To identify cellular and molecular changes that driver pediatric low grade glioma (PLGG) progression, we analyzed putative cancer stem cells (CSCs) and evaluated key biological changes in a novel and progressive patient-derived orthotopic xenograft (PDOX) mouse model. Flow cytometric analysis of 22 PLGGs detected CD133+ (<1.5%) and CD15+ (20.7 ± 28.9%) cells, and direct intra-cranial implantati...
OBJECTIVE We sought to report on laboratory and clinical experience following 6 months of clinical implementation of a single-nucleotide polymorphism-based noninvasive prenatal aneuploidy test in high- and low-risk women. STUDY DESIGN All samples received from March through September 2013 and drawn ≥9 weeks' gestation were included. Samples that passed quality control were analyzed for trisom...
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