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A new case of proximal 10q partial trisomy
(BMJ Publishing Group, 1991)
We report on a girl with mild phenotypic abnormalities and duplication of chromosome 10q11----10q22. The similarities to two previously reported cases with an identical chromosomal aberration provide further support for ...
Emanuel Syndrome: first case reported in Mexico
(Universidad del Zulia, 2018)
A new case of proximal 10q partial trisomy
(BMJ Publishing Group, 1991)
We report on a girl with mild phenotypic abnormalities and duplication of chromosome 10q11----10q22. The similarities to two previously reported cases with an identical chromosomal aberration provide further support for ...
Significance of absent or reverse diastolic flow in the umbilical artery Doppler as the only alteration in the evaluation of fetal well-being in fetuses with trisomy 21
(2010)
Evaluation of fetal well-being is a clinical challenge. The finding of absent or reverse diastolic flow (ADF/RDF) in the umbilical artery Doppler velocimetry is considered a sign of placental insufficiency. However, it is ...
A Rare Case of Trisomy 15pter-q21.2 Due to a De Novo Marker Chromosome
(WILEY-LISS, 2010)
Supernumerary marker chromosomes (sSMC) may or may not be associated with an abnormal phenotype, depending on the presence of euchromatin, on their chromosomal origin and whether they are inherited. Over 80% of sSMCs are ...
Small-molecule aggregation inhibitors reduce excess amyloid in a trisomy 16 mouse cortical cell line
(Sociedad de Biología de Chile, 2008)