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Clinical and mutational spectrum of paediatric Charcot-Marie-Tooth disease in a large cohort of Chinese patients.
Front Genet
July 2023
Department of Neurology, Peking University Third Hospital, Beijing, China.
Charcot-Marie-Tooth disease (CMT) is the most common inherited neurological disorder suffered in childhood. To date, the disease features have not been extensively characterized in the Chinese paediatric population. In this study, we aimed to analyse the clinical profiles and genetic distributions of a paediatric CMT cohort in China.
View Article and Find Full Text PDFLow-level complex mosaic with multiple cell lines affecting the 18q21.31q21.32 region in a patient with de novo 18q terminal deletion.
Eur J Med Genet
November 2022
Department of Molecular Medicine, University of Pavia, Pavia, Italy. Electronic address:
Article Synopsis
- A 5-year-old girl with a de novo homogeneous deletion of chromosome 18q was diagnosed at birth, presenting symptoms such as hypotonia, short stature, psychomotor retardation, and deafness due to ear canal anomalies.
- Genetic analysis revealed a complex 18q deletion involving segmental mosaicism, indicating a combination of varying copy numbers of chromosome segments in different cells.
- The findings suggest that the observed chromosomal abnormalities likely resulted from complications during cell division in early embryonic development, specifically involving a mirror chromosome mechanism, and emphasize the clinical significance of these genetic variations on development.
Long-read nanopore DNA sequencing can resolve complex intragenic duplication/deletion variants, providing information to enable preimplantation genetic diagnosis.
Prenat Diagn
February 2022
Leeds Institute of Medical Research, University of Leeds, St. James's University Hospital, Leeds, UK.
Background: The adoption of massively parallel short-read DNA sequencing methods has greatly expanded the scope and availability of genetic testing for inherited diseases. Indeed, the power of these methods has encouraged the integration of whole genome sequencing, the most comprehensive single approach to genomic analysis, into clinical practice. Despite these advances, diagnostic techniques that incompletely resolve the precise molecular boundaries of pathogenic sequence variants continue to be routinely deployed.
View Article and Find Full Text PDFDe Novo Inverted Duplication Deletion of 4p in a 14-Week-Old Male Fetus Aborted Due to Multiple Anomalies.
J Pediatr Genet
September 2021
Department of Medical Genetics, AORN San Pio, PO Gaetano Rummo, Benevento, Italy.
Inverted duplications deletions are rare, complex, and nonrecurrent chromosomal rearrangements associated with a variable phenotype. In this case report, we described the phenotype and genotype of a 14-week-old male fetus, who was aborted after discovery of multiple anomalies (septal cystic hygroma, open abdominal wall, and a nonidentifiable lower limb). At autopsy, fluorescence in situ hybridization and array comparative genomic hybridization identified an inverted duplication with terminal deletion of 4p [46,XY,der(4)del(p16.
View Article and Find Full Text PDFAn Adolescent with a Rare Distal Trisomy 6p and Distal Monosomy 6q Chromosomal Combination.
Case Rep Genet
August 2020
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.
We report on a 12-year-old female with both a partial duplication and deletion involving chromosome 6. The duplication involves 6p25.3p24.
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