Publications by authors named "M Ruffie"
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.
Six prenatally diagnosed cases of trisomy 9 are reported and 22 previously reported cases are reviewed; the difficulty of genetic counselling for such cases and the variation in the percentage of trisomic cells in different tissues, thus making accurate diagnosis of trisomy 9 difficult, are emphasized. In addition to karyotyping results, ultrasound findings are important in achieving diagnoses. Finally, a course of action when prenatal trisomy 9 is detected is proposed.
View Article and Find Full Text PDFThe phenotype of the 4 p-- syndrome may be clinically distinguished from the one of the 5 p-- syndrome by the presence of fusion abnormalities of the median line. In the case reported, these abnormalities concerned a cleft palate, an iris coloboma and a fistula of the sacrum, in addition to an important hypotrophy and a severe mental retardation associated with epilepsy.
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