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The Rapid Evaluation of Down Syndrome With Quantitative Fluorescence Polymerase Chain Reaction (QF-PCR): A Pilot Study Among the Population in Eastern Uttar Pradesh, India.
Cureus
April 2024
Anatomy, Institute of Medical Sciences, Banaras Hindu University, Varanasi, IND.
Background and objective Down syndrome (DS) is characterized by the presence of an additional chromosome; it is a typical chromosomal disorder causing intellectual disability in individuals. The diagnostic process for DS often involves conventional karyotyping, which can be time-consuming. Trisomy 21 and other chromosomal abnormalities may now be quickly and accurately diagnosed using quantitative fluorescence polymerase chain reaction (QF-PCR).
View Article and Find Full Text PDFIntracranial Calcification and Seizure with Down Syndrome: A Case Report.
JNMA J Nepal Med Assoc
December 2022
Patan Academy of Health Sciences, Lagankhel, Lalitpur, Nepal.
Unlabelled: Down syndrome is a genetic disorder caused by an extra copy of chromosome number 21. New onset of seizure in adults with Down syndrome is rare. The exact pathogenesis of intracranial calcification and seizure in Down syndrome is unknown, however, a possible association between hypocalcemia and vitamin D deficiency in Down syndrome was reported.
View Article and Find Full Text PDFPopulation Genetics in Malaysia and Japanese Populations Using Power Plex Y23 System.
Bull Tokyo Dent Coll
July 2020
Department of Forensic Odontology and Forensic Anthropology, Tokyo Dental College.
Population flow between Southeast Asian countries and Japan continues to gather pace. Accordingly, the number of foreigners involved in incidents in Japan has markedly increased, which means that forensic dentistry is now increasingly being faced with the need to analyze DNA from persons of non-Japanese extraction. The DNA test currently used for personal identification mainly utilizes short tandem repeats (STRs) on autosomal chromosomes and the Y-chromosome.
View Article and Find Full Text PDFMolecular Genealogy of a Mongol Queen's Family and Her Possible Kinship with Genghis Khan.
PLoS One
August 2017
Department of Science of Cultural Heritage, Graduate School, Chung-Ang University, Seoul, Korea.
Members of the Mongol imperial family (designated the Golden family) are buried in a secret necropolis; therefore, none of their burial grounds have been found. In 2004, we first discovered 5 graves belonging to the Golden family in Tavan Tolgoi, Eastern Mongolia. To define the genealogy of the 5 bodies and the kinship among them, SNP and/or STR profiles of mitochondria, autosomes, and Y chromosomes were analyzed.
View Article and Find Full Text PDFReport of a new case with pentasomy X and novel clinical findings.
Balkan J Med Genet
June 2015
Department of Pediatrics, Çukurova University, Faculty of Medicine, Adana, Turkey.
Pentasomy X is an extremely rare sex chromosome abnormality, a condition that only affects females, in which three more X chromosomes are added to the normally present two chromosomes in females. We investigated the novel clinical findings in a 1-year-old female baby with pentasomy X, and determined the parental origins of the X chromosomes. Our case had thenar atrophy, postnatal growth deficiency, developmental delay, mongoloid slant, microcephaly, ear anomalies, micrognathia and congenital heart disease.
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