Irradiation-reduced somatic cell hybrids containing fragments of the human X chromosome were constructed. Analysis of 16 hybrids that retained the Xq28 region with 12 Xq28-specific markers identified at least six different breakpoints, supporting the order cen-DXS304-DXS374-(DXS33, DXS134, DXS52, DXS15)-RCP-(DXS254, G6PD, F8C)-(DXS115, DXYS64)-qter. The generated panel of hybrids provides a useful tool for fine mapping of probes in the Xq28 region.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1159/000133447 | DOI Listing |
Mov Disord
January 2025
Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
Objective: Pathogenic variants in B-cell receptor-associated protein (BCAP31) are associated with X-linked, deafness, dystonia and cerebral hypomyelination (DDCH) syndrome. DDCH is congenital and non-progressive, featuring severe intellectual disability (ID), variable dysmorphism, and sometimes associated with shortened survival. BCAP31 encodes one of the most abundant chaperones, with several functions including acting as a negative regulator of endoplasmic reticulum (ER) calcium ion (Ca) concentration.
View Article and Find Full Text PDFInt J Surg Pathol
January 2025
Department of Otolaryngology-Head and Neck Surgery, College of Medicine, The University of Tennessee Health Sciences Center, Memphis, TN, USA.
squamous cell carcinoma is a recently recognized entity characterized by a non-viral-related non-keratinizing squamous cell carcinoma with chromosomal rearrangement between on 6p22.3 and on Xq28. This neoplasm is associated with an aggressive clinical behavior, particularly regarding local recurrences and distant metastases even with its deceptively bland histomorphology.
View Article and Find Full Text PDFPediatr Blood Cancer
December 2024
Division of Pediatric Hematology and Oncology, Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.
Introduction: Joubert syndrome a rare genetic disorder, is characterized by abnormalities in the development of the central nervous system with "molar signs" on magnetic resonance imaging of the brain and accompanied by cerebellar vermis hypoplasia, ataxia, hypotonia, and developmental delay. Keratoconus (KC) is a kind of genetically predisposed eye disease that causes blindness characterized by a dilated thinning of the central or paracentral cornea conically projected forward, highly irregular astigmatism, and severe visual impairment. Klinefelter syndrome is caused by an extra X chromosome in the cells of male patients, and the main phenotype is tall stature and dysplasia with secondary sex characteristics.
View Article and Find Full Text PDFAm J Med Genet A
December 2024
Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, California, USA.
We report a 17-year-old male with supravalvular stenosis, initial failure to thrive and delayed early development, short stature, acromelia, dysmorphic facial features, hypertelorism, macrocephaly, syringomyelia, hypertension, and anxiety disorder. Fluorescent in situ hybridization (FISH), chromosomal microarray analysis (CMA), and exome sequencing (ES) were nondiagnostic. Combined optical genome mapping (OGM) and genome sequencing (GS) showed a complex rearrangement including an X chromosome with a 22.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!