Chromosomal studies of two brothers with mental retardation and dysmorphic features showed a 13p+ chromosome. The same 13p+ chromosome was found in the father and the other sib, who were both phenotypically normal. The relationship between the physical abnormalities and the chromosomal findings are discussed.
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http://dx.doi.org/10.1007/BF00284441 | DOI Listing |
J Assoc Genet Technol
January 2023
Baylor Scott and White Health System, Department of Pathology, Temple, TX, USA.
We present a case study of a 73-year-old female with a history of pancytopenia. The bone marrow core biopsy was suggestive of a myelodysplastic syndrome, unspecified (MDS-U). Chromosomal analysis of the bone marrow revealed an abnormal karyotype including gain of chromosomes 1, 4, 6, 8, 9, 19, and 20 in addition to loss of chromosomes 11, 13, 15, 16, 17, and 22.
View Article and Find Full Text PDFHum Reprod
November 2022
Prenatal Diagnosis Department, Igenomix Spain Lab S.L.U., Paterna (Valencia), Spain.
Study Question: Does ART-based conception influence fetal fraction (FF) estimation and cell-free fetal DNA (cffDNA) testing performance?
Summary Answer: Mode of conception (ART versus natural) does not impact FF estimation or cffDNA test informativity rates.
What Is Known Already: Pregnancies achieved via ART are increasing, and cffDNA testing is displacing traditional prenatal screening methods due to its high sensitivity and specificity and noninvasive nature. However, conflicting data exist on cffDNA testing performance and FF in ART pregnancies compared with natural pregnancies.
Genes (Basel)
November 2021
Department of Veterinary Integrative Biosciences, Texas A&M University, College Station, TX 77843, USA.
Sci Rep
May 2021
Cellular and Molecular Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, PO Box 19195-4763, Tehran, Iran.
Metabolic syndrome (MetS) is one of the most important risk factors for cardiovascular disease. The 11p23.3 chromosomal region plays a potential role in the pathogenesis of MetS.
View Article and Find Full Text PDFReprod Sci
September 2021
Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, 100191, China.
This study aimed to examine the effects of adding growth hormone (GH) into the in vitro maturation (IVM) culture medium of mouse oocytes on pregnancy outcomes. Cumulus-oocyte complexes (COCs) were cultured in a medium with (GH group, 100 ng/mL) or without (Con group) GH. Thereafter, chromosome morphology, spindle morphology, and mitochondrial function were examined.
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