Publications by authors named "P Kleinfinger"
Optical genome mapping identifies a homozygous deletion in the non-coding region of the SCN9A gene in individuals from the same family with congenital insensitivity to pain.
Aïcha Boughalem Viorica Ciorna-Monferrato Natacha Sloboda Amélie Guegan François Page Pascale Kleinfinger
Front Genet
August 2024
Article Synopsis
- - The report discusses a patient with complete insensitivity to pain, experiencing painless fractures and joint hypermobility, linked to a family history of similar conditions among maternal relatives.
- - Genetic testing initially yielded normal results, but optical genome mapping revealed a homozygous deletion in a specific gene that causes impaired pain sensation, indicating recessive disease inheritance.
- - The study highlights the effectiveness of optical genome mapping as a diagnostic tool for identifying structural variants in cases where standard testing fails, making it a more accessible option than traditional whole-genome sequencing methods.
Article Synopsis
- The study investigates the effectiveness of cell-free DNA (cfDNA) testing for detecting fetal aneuploidies in women with triplet pregnancies, as current data is limited compared to singleton pregnancies.
- The research involved a retrospective analysis of 255 women who underwent cfDNA testing between 2017 and 2020, focusing primarily on trisomy 21 (T21) and secondarily on trisomy 18 (T18) and trisomy 13 (T13).
- Results indicated that cfDNA testing can serve as a primary screening tool for major fetal aneuploidies in triplet pregnancies, highlighting the importance of informed patient consent before proceeding with the test.
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Guillaume Jedraszak Florence Jobic Aline Receveur Frédéric Bilan Brigitte Gilbert-Dussardier Pascale Kleinfinger
Am J Med Genet A
April 2024
Article Synopsis
- - Cat Eye Syndrome (CES) is a rare genetic disorder linked to a marker chromosome from chromosome 22, leading to diverse symptoms including iris coloboma, anal atresia, and preauricular tags, but these are present in less than half of the cases.
- - An international study of 43 CES patients found that only 16% displayed all three classic symptoms, while 9% showed none; additional issues such as cardiac anomalies (51%) and intellectual disabilities (47%) were also common.
- - The study highlights the significance of supernumerary marker chromosomes (sSMC), found in 91% of cases, with many parents showing mild traits, emphasizing the need for genetic counseling regarding recurrence risks.
Article Synopsis
- A vanishing twin (VT) occurs in about 30% of twin pregnancies and is linked to a higher risk of fetal genetic abnormalities (aneuploidy).
- A study analyzed data from 847 VT patients who underwent noninvasive prenatal testing (NIPT) for common fetal trisomies, alongside comparison groups of singleton and viable multiple pregnancies.
- Results showed that while NIPT was effective in screening for trisomy 21 (with a 50% confirmation rate), caution is advised for interpreting results for trisomies 18 and 13, suggesting ultrasound monitoring instead of invasive tests.