Most chromosomal trisomies lead to spontaneous abortion. To date, trisomies of all human chromosomes have been observed. Chromosome 1 has been the most elusive, as trisomy 1 was the last aberration to be identified. To date there has been only one case report of a full trisomy 1 in the literature [1997: Am J Med Genet 68:98]. We have identified a second full trisomy 1 from the chromosome analysis of products of conception. We present a patient who conceived by in vitro fertilization (IVF). The cellular divisions of the fertilized egg were carefully monitored prior to transfer. Hormonal changes (increased hCG) indicated that implantation had occurred. Vaginal ultrasound demonstrated a gestational sac. At 42 days postfertilization no fetal heart beat could be detected. Cytogenetic analysis of the chorionic villi isolated from the products of conception found that all of the cells analyzed contained a 47,XY,+1 chromosomal complement.
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http://dx.doi.org/10.1002/1096-8628(2000)9999:999<00::aid-ajmg1130>3.0.co;2-p | DOI Listing |
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
Center of Prenatal Diagnosis, Lianyungang Maternal and Child Health Care Hospital, Lianyungang, Jiangsu 222000, China.
Objective: To explore the clinical significance of trisomy 7 signaled by non-invasive prenatal testing (NIPT).
Methods: Pregnant women with high risk for trisomy 7 by NIPT from January 2017 to December 2023 were selected as the study subjects, and the results of prenatal diagnosis and follow-up were analyzed. Literature related to pregnant women with a high risk for trisomy 7 by NIPT from January 2016 to July 2024 was retrieved from China Biomedical Literature Database, Wanfang Database, China National Knowledge Infrastructure and PubMed database.
Alzheimers Dement
December 2024
Department of Pathology and Laboratory Medicine, University of California, Irvine, Irvine, California, USA.
Introduction: This study investigated the impact of trisomy 21 mosaicism (mT21) on Alzheimer's disease (AD) neuropathology in a well-characterized clinical case described by Ringman et al.
Methods: We describe AD neuropathology in mT21 including amyloid beta, phosphorylated tau, astrogliosis, microgliosis, α-synuclein, and TAR DNA-binding protein 43 (TDP-43) in cerebral cortex, hippocampal subregions, and amygdala using immunohistochemistry.
Results: We observed high AD neuropathologic change with a score of A3B3C3.
J Pediatr Gastroenterol Nutr
December 2024
Department of Surgery, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
Objectives: Practice variability exists regarding the timing of gastrostomy tube (GT) placement in patients unable to maintain adequate oral nutrition. We sought to assess patient factors predictive of longer surgical GT use to inform patient selection.
Methods: We conducted a single-center, retrospective cohort study including children ≤18 years who underwent surgical GT placement from June 1, 2018 to June 1, 2021 at a children's hospital.
Mol Ther Nucleic Acids
December 2024
Department of Chromosome Biomedical Engineering, Integrated Medical Sciences, Graduate School of Medical Sciences, Tottori University, 86 Nishi-cho, Yonago, Tottori 683-8503, Japan.
Lancet Neurol
December 2024
Waisman Center, University of Wisconsin-Madison, Madison, WI, USA; School of Human Ecology, University of Wisconsin-Madison, Madison, WI, USA. Electronic address:
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