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MicroRNA-15a and-16-1 act via MYB to elevate fetal hemoglobin expression in human trisomy 13

[HTML] from pnas.orgVG Sankaran, TF Menne… - Proceedings of the …, 2011 - National Acad Sciences
Many human aneuploidy syndromes have unique phenotypic consequences, but in most instances
it is unclear whether these phenotypes are attributable to alterations in the dosage of specific
genes. In human trisomy 13, there is delayed switching and persistence of fetal ...
Cited by 9 - Related articles - All 7 versions

Mosaic trisomy 11 in a fetus with bilateral renal agenesis: co-incidence or new association?

M Balasubramanian, LC Peres… - Clinical Dysmorphology, 2011 - journals.lww.com
We report a fetus with mosaic trisomy 11 who also had bilateral renal agenesis. We describe
the post-mortem examination findings in the fetus and cytogenetic analysis. There are no earlier
reports of full trisomy 11, presumably because it is lethal and results in early spontaneous ...
Related articles - All 4 versions

Transcriptomic analysis of cell-free fetal RNA suggests a specific molecular phenotype in trisomy 18

K Koide, DK Slonim, KL Johnson, U Tantravahi… - Human genetics, 2011 - Springer
Abstract Trisomy 18 is a common human aneuploidy that is associated with significant perinatal
mortality. Unlike the well-characterized “critical region” in trisomy 21 (21q22), there is no corresponding
region on chromo- some 18 associated with its pathogenesis. The high morbidity and ...
Cited by 2 - Related articles - All 4 versions

Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21

[PDF] from biocenter.kzEA Papageorgiou, A Karagrigoriou, E Tsaliki… - Nature Medicine, 2011 - nature.com
The trials performed worldwide toward noninvasive prenatal diagnosis (NIPD) of Down's syndrome
(or trisomy 21) have shown the commercial and medical potential of NIPD compared to the currently
used invasive prenatal diagnostic procedures. Extensive investigation of methylation ...
Cited by 5 - Related articles - All 7 versions

A Case of Trisomy 8 Mosaicism in a Patient with Secondary Amnorreha without Abnormal Phenotype

HS Kang, YS Son, SY Kim… - Journal of Genetic …, 2011 - synapse.koreamed.org
Constitutional trisomy 8 mosaicism (CT8M) is a relatively rare aneuploidy in humans with characteristic
phenotypes including typical craniofacial feature (such as deformed skull, prominent
forehead, low-set and/or dysplastic ears), skeletal malformation, cardiac anomaly, renal ...
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