Two recent studies have suggested that a schizophrenia susceptibility locus may lie on the proximal long arm of chromosome 5. Partial trisomy of a 20-30 centimorgan region of chromosome 5 (5q11.2-13.3) was found to cosegregate with schizophrenia in a Canadian family of Chinese descent. Moreover, DNA markers from proximal 5q (D5S39, D5S76) were found to be linked to schizophrenia and related disorders in seven British and Icelandic families. We now report an initial physical map of DNA markers relative to the partial trisomy chromosome 5, as well as preliminary evidence against linkage of this region to schizophrenia in four American families.
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http://dx.doi.org/10.1093/schbul/15.3.441 | DOI Listing |
Diabetes Obes Metab
January 2025
BFA, UMR 8251, CNRS, Team « Biologie et Pathologie du Pancréas Endocrine », Université Paris Cité, Paris, France.
Aims: Down syndrome (DS) or trisomy 21 is the most prevalent genetic disorder in the world. In addition to common symptoms such as intellectual disabilities and morphological abnormalities, several comorbidities are associated with DS, including metabolic dysfunction. Obesity and diabetes are more prevalent in people with DS compared with the general population.
View Article and Find Full Text PDFCureus
December 2024
Healthcare Surveillance and Bioethics, Università Cattolica del Sacro Cuore, Rome, ITA.
Jérôme Lejeune was a French physician and geneticist whose crucial contribution to the field of medicine was the discovery of an extra copy of chromosome 21 in those presenting with a range of physical and developmental anomalies known as Down syndrome. From this discovery on, the condition had a new name (trisomy 21) and a specific scientific explanation that left no room for discrimination against those affected and their parents. Lejeune promoted the idea that a medical doctor should hate the condition and love the patient: while working to find a cure for trisomy 21, Lejeune was also able to reassure his patients and their families and lead them out from under a long-standing stigma inflicted upon them.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, 60-355 Poznan, Poland.
Down syndrome develops due to the presence of supernumerary chromosome 21. This diagnosis is made in approximately 1:800 live births. The tendency to develop autoimmune disorders like idiopathic arthritis, celiac disease, diabetes mellitus type 1, vitiligo and autoimmune thyroid disease is strongly expressed in patients with Down syndrome.
View Article and Find Full Text PDFTheor Appl Genet
January 2025
CSIRO Agriculture and Food, Canberra, ACT, 2601, Australia.
Zebularine-treated wheat uncovered a phenotype with characteristics of an epigenetically regulated trait, but major chromosomal aberrations, not DNA methylation changes, are the cause, making zebularine unsuitable for epigenetic breeding. Breeding to identify disease-resistant and climate-tolerant high-yielding wheats has led to yield increases over many years, but new hardy, higher yielding varieties are still needed to improve food security in the face of climate change. Traditional breeding to develop new cultivars of wheat is a lengthy process taking more than seven years from the initial cross to cultivar release.
View Article and Find Full Text PDFCells
December 2024
D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya Line 3, 199034 Saint Petersburg, Russia.
Chromosomal abnormalities of the embryo are the most common cause of first-trimester pregnancy loss. In this single-center study, we assessed the frequency and the spectrum of chromosomal abnormalities in miscarriages for each year of maternal age from 23 to 44. Cytogenetic data were obtained by conventional karyotyping of 7118 miscarriages in women with naturally conceived pregnancies.
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