Publications by authors named "J Puechberty"
Article Synopsis
- A case study describes a pregnant woman who underwent chorionic villus sampling due to a high risk associated with fetal nuchal translucency.
- An intragenic deletion affecting the Duchenne muscular dystrophy (DMD) gene was detected in a male fetus, but was found only in a small percentage (23-30%) of placental cells.
- The report highlights the need for amniocentesis after identifying mosaicism in the placenta to confirm that any genetic changes are not affecting the fetus, as this instance represents only the second documented case of confined placental mosaicism involving a DMD deletion.
Introduction: Accurate identification and characterization of Large Genomic Rearrangements (LGR), especially duplications, are crucial for precise diagnosis and risk assessment. In this report, we characterized an intragenic duplication breakpoint of to determine its pathogenicity significance.
Methods: A 52-year-old female with triple-negative breast cancer was diagnosed with a novel LGR.
Article Synopsis
- Chromosome 1p36 deletion syndrome (1p36DS) is a common genetic disorder resulting from a deletion on the short arm of chromosome 1, affecting 1 in every 5,000 to 10,000 live births in the U.S.
- The syndrome is characterized by a range of health issues including developmental delays, heart defects, and distinct facial features.
- This study analyzed 86 patients in France to compare the incidence of 1p36DS with other syndromes and examined how deletion locations influence specific symptoms and overall management of the disorder.
Article Synopsis
- Titin protein, encoded by the TTN gene with 364 exons, is key for muscle elasticity and has various isoforms due to extensive alternative splicing in skeletal and cardiac muscles.
- Variants in the TTN gene can cause myopathies with diverse symptoms and can be transmitted in dominant or recessive patterns.
- The implementation of long-reads sequencing technology helps accurately identify and locate variants in complex repeated regions of the TTN gene, enhancing diagnosis and screening for TTN-related myopathies in patients and their relatives.
Research Question: Should whole-genome investigations be considered systematically before a complex chromosomal abnormality preimplantation genetic testing for structural chromosomal rearrangements (PGT-SR) management is carried out using conventional cytogenetic techniques?
Design: A male carrying a putative rare interchromosomal reciprocal insertion (IRI) 46,XY,ins(14;?)(q11;?).ish der(14)ins(14;22)(q11.2;q11.