Publications by authors named "F SERVILLE"
Article Synopsis
- The study highlights the challenges in diagnosing Pallister-Killian syndrome due to its varied clinical signs, making it hard to identify based solely on appearance.
- The presence of tetrasomy 12p can be subtle, requiring testing of multiple tissue types, as mosaicism levels can vary significantly among samples.
- Prenatal cytogenetic studies are recommended if the syndrome is suspected in ultrasound to provide accurate information for genetic counseling, given the severe outcomes for affected individuals.
X-linked dominant Charcot-Marie-Tooth (CMTX) neuropathy has been mapped to the Xq13 region. Subsequently, several mutations that could account for CMTX have been detected in the coding part of the connexin32 (Cx32) gene, which is located within this region. In order to develop more specific diagnostic tools, we have begun a systematic screening of families with dominant CMTX for mutations in the coding region of the Cx32 gene.
View Article and Find Full Text PDFCrouzon craniofacial dysostosis (CFD) is an autosomal dominant form of craniosynostosis characterized by an abnormal skull shape, with hypertelorism, prominent eyes and midfacial retrusion. Recently, a gene for CFD has been mapped to chromosome 10q25-q26 and mutations in exon B of the fibroblast growth factor receptor 2 (FGFR2) gene have been identified. Here, we report the mapping of a CFD gene to chromosome 10q by close linkage to probe AFMa197wb1 at locus D10 S1483 in six unrelated families of French ancestry (Zmax = 4.
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