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Two independent families with de novo whole APC gene deletion and intellectual disability: a case report.
Hered Cancer Clin Pract
January 2025
First Department of Medicine, Hamamatsu University School of Medicine, Hamamatsu, 431-3192, Japan.
Background: Familial adenomatous polyposis (FAP) is an autosomal dominant colorectal tumour syndrome characterised by the formation of multiple adenomatous polyps throughout the colon. It is important to understand the extracolonic phenotype that characterizes FAP. Most previous case reports of patients with both FAP and intellectual disability (ID) have described deletions in all or part of chromosome 5q, including the APC locus.
View Article and Find Full Text PDFNonrecurrent Triplication of 5q21.3q23.3: A Case Report and Review of the Literature.
Am J Med Genet A
December 2024
Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Health Care, Iowa City, Iowa, USA.
Triplications involving 5q21.3q23.3 are rare, and a phenotype has not been established.
View Article and Find Full Text PDFDetection of chromosome 5q interstitial deletion of 5q14.3-q31.1 by chromosome microarray analysis in a second-trimester fetus with multiple congenital anomalies and a literature review of chromosome 5q interstitial deletion syndrome.
Taiwan J Obstet Gynecol
November 2024
Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Article Synopsis
- - A 30-year-old woman underwent prenatal ultrasound at 14 weeks and was found to be carrying a fetus with multiple congenital anomalies, prompting chromosome microarray analysis (CMA) after the pregnancy was terminated.
- - The analysis revealed a significant deletion on chromosome 5 (5q14.3-q31.1), affecting numerous genes, including NR2F1 and MEF2C, indicating a genetic basis for the fetal conditions observed.
- - CMA proves to be an effective tool in identifying genetic abnormalities in fetuses with unexplained congenital anomalies, highlighting its value in prenatal genetic testing.
Familial adenomatous polyposis: a case report.
J Med Case Rep
September 2024
Addis Ababa University College of Health Sciences, Addis Ababa, Ethiopia.
Article Synopsis
- - Familial adenomatous polyposis (FAP) is a genetic condition linked to mutations in the APC gene, leading to numerous colorectal polyps and an increased risk for colorectal cancer, occurring in about 1 in 10,000 to 30,000 births.
- - The case describes a 22-year-old Ethiopian woman diagnosed with FAP after presenting with rectal bleeding; imaging and biopsy confirmed the presence of a rectal tumor and adenocarcinoma associated with her condition.
- - The importance of establishing quality diagnostic and treatment services for colorectal cancer in low- and middle-income countries is emphasized, as improved early detection and resource-sensitive care could significantly improve patient outcomes.
Whole Genome Analysis in Consanguineous Families Reveals New Loci for Speech Sound Disorder (SSD).
Genes (Basel)
August 2024
Speech-Language-Hearing Sciences & Disorders, University of Kansas, Lawrence, KS 66045, USA.
Speech is the most common means of communication in humans. Any defect in accurate speech production ability results in the development of speech sound disorder (SSD), a condition that can significantly impair an individual's academic performance, social interactions, and relationships with peers and adults. This study investigated the genetic basis of SSD in three Pakistani families.
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