Trisomy 21
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Recent papers in Trisomy 21
Prenatal diagnosis of fetal trisomies is usually performed by cytogenetic analysis from amniotic fluid. This requires lengthy laboratory procedures and high costs and is unsuitable for large-scale screening of pregnant women. An... more
Clinical and cytogenetic data of two related patients, both trisomic for the segment 4q27→qter, are reported. Familial studies determined that the mothers of the two probands were carriers of the same balanced translocation between... more
Periodontal disease is highly prevalent in Down syndrome (DS) individuals and is a significant cause of tooth loss in these individuals. Alterations in the immune system associated with poor oral hygiene, normally observed in these... more
This project investigates different aspects of craniofacial phenotypes exhibited in individuals with Down syndrome (DS), siblings of individuals with DS, and typically developing sibling pairs. A human sample (4-12 yrs.) consisting of 3D... more
AimTo review systematically the neurodevelopmental characteristics of individuals with sex chromosome trisomies (SCTs).MethodA bibliographic search identified English-language articles on SCTs. The focus was on studies unbiased by... more
A 22-week stillborn fetus with 47,XXX karyotype had lower mesodermal defects consisting of irregular fusion of the sacral vertebrae, anal agenesis, multicystic dysplasia of a horseshoe kidney, a single umbilical artery, dysplastic... more
A 22-week stillborn fetus with 47,XXX karyotype had lower mesodermal defects consisting of irregular fusion of the sacral vertebrae, anal agenesis, multicystic dysplasia of a horseshoe kidney, a single umbilical artery, dysplastic... more