Trisomy 13 is one of the most common trisomies in clinically recognized pregnancies and one of the few trisomies identified in liveborns, yet relatively little is known about the errors that lead to trisomy 13. Accordingly, we initiated studies to investigate the origin of the extra chromosome in 78 cases of trisomy 13. Our results indicate that the majority of cases (>91%) are maternal in origin and, similar to other autosomal trisomies, the extra chromosome is typically due to errors in meiosis I. Surprisingly, however, a large number of errors also occur during maternal meiosis II ( approximately 37%), distinguishing trisomy 13 from other acrocentric and most nonacrocentric chromosomes. As with other trisomies, failure to recombine is an important contributor to nondisjunction of chromosome 13.
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http://dx.doi.org/10.1002/ajmg.a.31913 | DOI Listing |
Cureus
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 PDFPhysiol Mol Biol Plants
December 2024
School of Life Science and Engineering, Southwest University of Science and Technology, Mianyang, 621010 Sichuan Province China.
Unlabelled: The rapid growth of Bamboo made the uptake and allocation of nitrogen much important. Nitrate is the main form that plant utilized nitrogen by nitrate transporters (NRTs) as well as ammonium salt. In this study, we identified 155 genes which mapped to 32 chromosomes out of 35 chromosomes in .
View Article and Find Full Text PDFCureus
November 2024
Department of General Surgery, General Medicine Practice Program, Batterjee Medical College for Science and Technology, Jeddah, SAU.
Ambiguous genitalia is a rare disorder where it is unclear whether an infant's external genitals are male or female. This can be attributed to various internal and external etiologies, such as androgen receptor abnormalities, gonadal abnormalities (such as gonadal dysgenesis or Klinefelter syndrome where a male has an extra X chromosome), enzymatic defects, etc. Correction of such atypical genitalia requires a multidisciplinary approach, including but not limited to surgeons and therapists.
View Article and Find Full Text PDFJ Med Case Rep
December 2024
Ministry of Health, Riyadh, Saudi Arabia.
Background: Klinefelter syndrome is considered one of the most common sex chromosome disorders affecting males. The presence of an extra X chromosome can alter the tendency to develop various cancers, including lymphomas. Lacrimal gland lymphoma is a disease of the elderly, with a median age of presentation of 70 years.
View Article and Find Full Text PDFAm J Med Genet A
December 2024
Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Health Care, Iowa City, Iowa, USA.
Triplications involving 5q21.3q23.3 are rare, and a phenotype has not been established.
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