Patient no 1, a boy, was carrier of a de novo del (14) (pter- greater than q23::q32- greater than qter). Patient no 2, a boy, had a de novo del (14) (pter- greater than q23::q24.2- greater than qter). Common dysmorphisms included bushy eyebrows, frontal bossing, and micrognathia. Patient no 2 had features of Holt-Oram syndrome, i.e. congenital heart defect and severe ulnar defect. Patient no 1 had congenital heart defect but no typical osseous disorders. The association of Holt-Oram syndrome and del 14q24.1 is stressed. Patient no 1 was heterozygous for Pl (alpha-1-antitrypsin) phenotypes. The gene locus could thus be excluded from q24 and q31, and tentatively assigned to q32.1.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
An Algorithm for Management of Radial Longitudinal Deficiency.
J Hand Surg Asian Pac Vol
December 2024
Department of Hand Surgery, Kasturba Medical College Manipal, Manipal Academy Of Higher Education, Manipal, Karnataka, India.
Article Synopsis
- - The management of radial longitudinal deficiency (RLD) lacks specific guidelines, resulting in varied treatment approaches that complicate the determination of effective interventions for individual patients.
- - Approximately 40% of RLD cases are associated with syndromes like Holt-Oram, TAR, and VACTERL, making it essential for hand surgeons to recognize these conditions and their implications for treatment.
- - Surgical procedures like centralisation and radialisation are fundamental for treatment, but current methods do not fully restore normal wrist function; emerging techniques focus on improving biomechanics and considering proximal limb changes in management.
Single-nuclei transcriptomics reveals TBX5-dependent targets in a patient with Holt-Oram syndrome.
J Clin Invest
November 2024
Department of Integrative Physiology, Baylor College of Medicine, Houston, Texas, USA.
Elucidating the roles of SOD3 correlated genes and reactive oxygen species in rare human diseases using a bioinformatic-ontology approach.
PLoS One
October 2024
Personalised Medicine Centre, School of Medicine, Ulster University, C-TRIC Building, Altnagelvin Hospital, Derry, Londonderry, Northern Ireland.
Article Synopsis
- Superoxide Dismutase 3 (SOD3) helps reduce oxidative stress in the body by converting superoxide into hydrogen peroxide, which can cause biomolecular damage when not regulated.
- This research used a large dataset (GSE2109) of 2,158 cancer samples to analyze the expression of SOD3 and its correlation with other genes, leading to the identification of genes that are both positively and negatively correlated.
- From the analysis, 12 significant disorders were linked to SOD3, revealing 35 novel genes associated with conditions like Ehlers-Danlos Syndrome and Renal Tubular Dysgenesis, which may help in understanding the role of oxidative stress in these diseases.
Anesthetic management of an infant with Holt-Oram syndrome.
J Anaesthesiol Clin Pharmacol
March 2024
Department of Anaesthesiology and Critical Care, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India.
Associated Anomalies in Radial Ray Deficiency.
Am J Med Genet A
February 2025
Faculté de Médecine, Laboratoire de Génétique Médicale, Strasbourg, France.
Article Synopsis
- * In a study of 387,067 births in northeastern France from 1979 to 2007, 83 cases of RRD were found, resulting in a prevalence of 2.14 per 10,000 births, and 75.9% of these cases had additional congenital anomalies.
- * The co-occurring anomalies included chromosomal disorders, syndromic conditions like VACTERL association, and multiple congenital anomalies (MCA), affecting various systems such as musculoskeletal, cardiovascular, urinary, and orofacial; a multidisciplinary approach is advised for managing such cases.
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!