Two sisters with multiple congenital malformations were shown to be trisomic for 10q24 to 10qter as a consequence of malsegregation of the balanced paternal translocation t(9;10) (q34;q24). Comparison of their phenotype with that of other patients reported in the literature confirms the individuality of the partial 10q trisomy syndrome.
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Taiwan J Obstet Gynecol
January 2025
Department of Obstetrics and Gynecology, Changhua Christan Hospital, Changhua, Taiwan. Electronic address:
Objective: Prenatal diagnosis of fetal 13q34 microdeletion is a rare condition, which may present with abnormal fetal development, including facial dysmorphism, mental retardation, and developmental delay. We present a pregnant woman in whom the fetus presented with a 0.24-cm ventricular septal defect at 20 weeks of gestation, with fetal 13q34 (113610612-115092648) deletion.
View Article and Find Full Text PDFJ Nutr Sci Vitaminol (Tokyo)
January 2025
Centre for Advanced Medical Research and Training, Usmanu Danfodiyo University.
The nutritional status of fathers plays a significant role in influencing the growth, metabolism, and susceptibility to diseases in their offspring. Paternal zinc deficiency can lead to developmental programming effects on the offspring's zinc homeostasis. This study investigated the effects of paternal zinc deficiency on the zinc homeostasis of offspring in a Drosophila melanogaster (fruit fly) model.
View Article and Find Full Text PDFMol Genet Genomic Med
December 2024
Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Background: Uniparental isodisomy (UPiD) refers to a condition, in which both homologous chromosomes are inherited from only one parental homolog, which can result in either imprinting disorders or autosomal recessive conditions.
Methods: We performed chromosomal microarray analysis, exome sequencing (ES), and RNA sequencing (RNA-seq) using the patient's urine-derived cells on a patient with growth retardation and multiple congenital anomalies.
Results: We identified a homozygous ~0.
Medicina (Kaunas)
October 2024
Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania.
Recurrent pregnancy loss (RPL) is a multifactorial condition, encompassing genetic, anatomical, immunological, endocrine, as well as infectious and environmental factors; however, the etiology remains elusive in a substantial number of cases. Genetic factors linked to RPL include parental karyotype abnormalities (e.g.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!