In this report the Leuven experience (1970-1984) on reciprocal translocations is summarized. A total of 153 unrelated index patients, carriers of different types of reciprocal translocations, and their families were investigated. Familial reciprocal, apparently balanced translocations were found in 75 unrelated families bringing the total numbers of translocation carrier parents and their offspring to 132 and 445, respectively. In 61.5% of the patients the reciprocal translocation was detected after the birth of a malformed child with unbalanced karyotype or through investigation because of recurrent spontaneous abortions, stillbirths, or infertility. In 41 patients (28 familial and 13 de novo), however, the reciprocal balanced translocation was found to be associated with mental retardation and/or congenital malformations (MR/CM) which is significantly higher than expected. This excess of MR/CM in de novo and familial balanced translocation carriers is illustrated and discussed.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/BF00278808 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Foxk2 Enhances Adipogenic Differentiation by Relying on the Transcriptional Activation of Peroxisome Proliferator-Activated Receptor Gamma.
J Cell Mol Med
January 2025
NHC Key Lab of Hormones and Development and Tianjin Key Lab of Metabolic Diseases, Tianjin Medical University Chu Hsien-I Memorial Hospital & Institute of Endocrinology, Tianjin, China.
Proper differentiation of bone marrow stromal cells (BMSCs) into adipocytes is crucial for maintaining skeletal homeostasis. However, the underlying regulatory mechanisms remain incompletely understood, posing a challenge for the treatment of age-related osteopenia and osteoporosis. Here, through comprehensive gene expression analysis during BMSC differentiation into adipocytes, we identified the forkhead transcription factor Foxk2 as a key regulator of this process.
View Article and Find Full Text PDFChromosome-level echidna genome illuminates evolution of multiple sex chromosome system in monotremes.
Gigascience
January 2025
Centre for Evolutionary & Organismal Biology, Zhejiang University School of Medicine, Hangzhou 310058, China.
Background: A thorough analysis of genome evolution is fundamental for biodiversity understanding. The iconic monotremes (platypus and echidna) feature extraordinary biology. However, they also exhibit rearrangements in several chromosomes, especially in the sex chromosome chain.
View Article and Find Full Text PDFStructure of WzxE the lipid III flippase for Enterobacterial Common Antigen polysaccharide.
Open Biol
January 2025
Rosalind Franklin Institute, Harwell Campus, Didcot, UK.
The enterobacterial common antigen (ECA) is conserved in Gram-negative bacteria of the order although its function is debated. ECA biogenesis depends on the Wzx/Wzy-dependent strategy whereby the newly synthesized lipid-linked repeat units, lipid III, are transferred across the inner membrane by the lipid III flippase WzxE. WzxE is part of the Wzx family and required in many glycan assembly systems, but an understanding of its molecular mechanism is hindered due to a lack of structural evidence.
View Article and Find Full Text PDFTranslocation: A Common Tumor Driver of Distinct Human Neoplasms.
Int J Mol Sci
December 2024
School of Medicine and Dentistry, Faculty of Clinical and Biomedical Sciences, University of Central Lancashire, Preston PR1 2HE, UK.
Cancer is among the leading causes of mortality in developed countries due to limited available therapeutic modalities and high rate of morbidity. Although malignancies might show individual genetic landscapes, recurring aberrations in the neoplastic genome have been identified in the wide range of transformed cells. These include translocations of frequently affected loci of the human genetic material like the Ewing sarcoma breakpoint region 1 () of chromosome 22 that results in malignancies with mesodermal origin.
View Article and Find Full Text PDFEwing's sarcoma of the head and neck: differential diagnosis, treatment and outcomes.
Curr Opin Otolaryngol Head Neck Surg
December 2024
Department of Radiodiagnosis, Tata Memorial Hospital, Mumbai, HBNI, Parel, Mumbai.
Purpose Of Review: Ewing's sarcoma is a small round-cell tumour typically arising in the bones, and only rarely affecting soft tissues. These are rarely seen in the head and neck comprising 1-9% of all cases, making management of these tumours a challenge. This review aims to review the current literature to update the current diagnostic and treatment options in head and neck Ewing's sarcoma.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!