Publications by authors named "Gaelle Salaun"
Article Synopsis
- Duplications of the 3q29 chromosomal region are rare genetic variations linked to diverse neurodevelopmental disorders, often causing learning disabilities and neuropsychiatric issues.
- A study involving 31 families revealed different sizes of 3q29 duplications: 14 recurrent, 8 overlapping, and 9 smaller ones, with some patients showing additional genetic factors influencing their conditions.
- Most patients exhibited mild neurodevelopmental disorders, with many duplications being inherited and associated with low rates of intellectual disabilities, suggesting that severe cases might require more detailed genetic examination.
Optical genome mapping (OGM) is an alternative to classical cytogenetic techniques to improve the detection rate of clinically significant genomic abnormalities. The isolation of high-molecular-weight (HMW) DNA is critical for a successful OGM analysis. HMW DNA quality depends on tissue type, sample size, and storage conditions.
View Article and Find Full Text PDFPurpose: Cytogenetic analysis provides important information for prenatal decision-making and genetic counseling. Optical genome mapping (OGM) has demonstrated its performances in retrospective studies. In our prospective study, we assessed the quality of DNA obtained from cultures of amniotic fluid (AF) and chorionic villi (CV) and evaluated the ability of OGM to detect all clinically relevant aberrations identified by standard methods.
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- Oculo-auriculo-vertebral spectrum (OAVS) is a common cause of congenital head and neck malformations in children, characterized by a variety of defects including ear anomalies, facial asymmetry, and ocular problems, often linked to genetic factors.
- An international study of 17 OAVS patients identified a significant genetic microduplication, revealing a critical region associated with these malformations and highlighting the severity of ear deformities in affected individuals.
- Research using zebrafish models showed that overexpression of the implicated gene impacts early craniofacial development, underscoring the importance of correct gene dosage for proper formation of facial structures.
Article Synopsis
- - The study focuses on 46,XX SRY-positive males, who have a testicular disorder due to a translocation of the SRY gene, highlighting possible connections between short stature and complex chromosomal rearrangements.
- - Research involved data from 12 laboratories, revealing that 89.5% of patients had SRY present and various X chromosome breakpoints, impacting gene structures, particularly with the ARSE gene in some cases.
- - Despite observing differences in chromosome structure, the height comparison between patients with and without ARSE deletion showed no significant statistical difference, indicating other factors may influence stature in these individuals.
Telomeres protect chromosome ends and control cell division and senescence. During organogenesis, telomeres need to be long enough to ensure the cell proliferation necessary at this stage of development. Previous studies have shown that telomere shortening is associated with growth retardation and congenital malformations.
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- - The 10q26 subtelomeric microdeletion syndrome is a rare condition with diverse clinical symptoms, and the connections between specific genes and the resulting physical and cognitive traits remain ambiguous.
- - This study describes two cases of a significant 860 kb deletion in the 10q26.2 region found in a fetus with growth issues and his mother, involving symptoms like distinctive facial features, club feet, and mild intellectual disabilities.
- - It identifies the smallest deletion of this kind to date, suggesting that the genes DOCK1, INSYN2, and NPS may play crucial roles in the syndrome’s symptoms, with DOCK1 being the primary candidate for further investigation.
Background: Idiopathic central precocious puberty (ICPP) is supposed to be non-existent in a context of testicular destruction that is typically present in Klinefelter syndrome (KS). Herein, we describe a rare case of ICPP in a Klinefelter patient (47,XXY) with 2 maternal X chromosomes. Moreover, we highlight the differences in gonadotropin levels in comparison to males with ICPP and a normal karyotype.
View Article and Find Full Text PDFResearch Question: Is sperm fluorescence in-situ hybridization (FISH) useful to evaluate the risk of chromosomally unbalanced gametes in interchromosomal reciprocal insertion (IRI) carriers? How do these imbalances lead to recurrent miscarriages?
Design: This study reports a clinical and molecular study of a rare familial balanced IRI resulting in recurrent spontaneous miscarriage. Sperm FISH was performed to estimate the number of unbalanced gametes.
Results: A 31-year-old healthy male (proband) and his 28-year-old female partner were referred to the Genetics Department for three spontaneous miscarriages occurring during the first trimester of pregnancy.
In the interphase cell nucleus, chromosomes adopt a conserved and non-random arrangement in subnuclear domains called chromosome territories (CTs). Whereas chromosome translocation can affect CT organization in tumor cell nuclei, little is known about how aneuploidies can impact CT organization. Here, we performed 3D-FISH on control and trisomic 21 nuclei to track the patterning of chromosome territories, focusing on the radial distribution of trisomic HSA21 as well as 11 disomic chromosomes.
View Article and Find Full Text PDFBackground: Microdeletions encompassing chromosome bands 2q14.1q14.3 are rare.
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