The casee presented here may be the first fully identified and verified cas of translocation 4p-- syndrome, a B4/G22 translocation, ie, 45,XX,-4,-22,+t(4q 22q). Thirty-nine other cases of the 4p--syndrome, including one other possible translocation case, have been found in the medical literature. Conventional chromosome studies cannot distinguish between 4p-- (Wolf) syndrome and 5p-- (cri-du-chat) syndrome, and the clinical features, as in our case, may not be sufficiently characteristic to permit differentiation. The newer chromosome banding techniques have made specific identification possible.

Download full-text PDF

Source
http://dx.doi.org/10.1001/archpedi.1975.02120400066017DOI Listing

Publication Analysis

Top Keywords

translocation 4p--
8
4p-- syndrome
8
translocation
4
syndrome
4
syndrome general
4
general review
4
review casee
4
casee presented
4
presented fully
4
fully identified
4

Similar Publications

Dry eye disease and morphological changes in the anterior chamber in people with cystic fibrosis.

J Cyst Fibros

January 2025

Pulmonology Department, Regional University Hospital of Malaga, Department of Medicine and Dermatology, University of Malaga, Biomedical Research Institute of Malaga (IBIMA) - Bionand Platform, Malaga, Spain. Electronic address:

Background: Cystic fibrosis (CF) is caused by variants in a gene that encodes a protein essential for water and ion transport in the epithelial cells of exocrine organs. Given the possible relationship of this protein and conjunctival and corneal epithelium, the aim of this study was to evaluate ophthalmologic alterations in people with CF.

Methods: Forty-five people with CF underwent pulmonary evaluation including inflammatory score (IS).

View Article and Find Full Text PDF

Background: Cardiometabolic disorders, notably primary hypertension and type 2 diabetes, present substantial global health challenges. The intricate interplay between metabolic and cardiovascular pathways has prompted extensive research into molecular mechanisms linking these conditions. The adipokine Retinol Binding Protein 4 (RBP4), initially recognized for retinol transport, has emerged as a potential biomarker in the network of metabolic and cardiovascular dysfunction.

View Article and Find Full Text PDF

Heart failure, a major public health issue, often stems from prolonged stress or damage to the heart muscle, leading to cardiac hypertrophy. This can progress to heart failure and other cardiovascular problems. Doxorubicin (DOX), a common chemotherapy drug, and isoproterenol (ISO), a β-adrenergic agonist, both induce cardiac hypertrophy through different mechanisms.

View Article and Find Full Text PDF
Article Synopsis
  • - The study aimed to determine how the sex of the carrier affects embryo outcomes and pregnancies in couples participating in preimplantation genetic testing for structural rearrangements (PGT-SR).
  • - In a retrospective analysis of 412 couples, results showed that male carriers had a higher rate of genetically transferable blastocysts compared to female carriers (34.0% vs 31.7%), primarily due to different segregation patterns in the Robertsonian translocation subgroup.
  • - The findings suggest that while the sex of the carrier impacts embryo transfer rates, other pregnancy outcomes remained similar, and the differences were mainly observed in the RobT subgroup, with minor variations noted in the RecT subgroup.
View Article and Find Full Text PDF

Although sodium-glucose transport protein-2 (SGLT2) inhibitors (SGLT2i) do not increase the risk of acute kidney injury (AKI) in general, they may pose a risk in patients undergoing angiography. This prospective cohort study aimed to evaluate the safety and efficacy of SGLT2i for post-contrast AKI (PC-AKI) in patients with type 2 diabetes mellitus (T2DM). Following screening, 306 patients with T2DM selected to undergo coronary arterial angiography with or without percutaneous intervention were enrolled.

View Article and Find Full Text PDF

Want 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!