Daniel Sartenaer

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Maternal uniparental disomy of chromosome 14 (upd(14)mat) is responsible for a Prader-Willi-like syndrome with precocious puberty. Although upd(14) is often hypothesized to result from trisomy rescue mechanism, T14 cell lines are usually not found with postnatal cytogenetic investigations. We report the coexistence of both chromosomal abnormalities in a(More)
AIMS To investigate the correlation between O(6)-methylguanine-DNA-methyltransferase (MGMT) promoter methylation and benefit from temozolomide in patients with recurrent high-grade glioma. PATIENTS AND METHODS A real-time, quantitative, methylation-specific PCR assay was performed on archival tissue blocks from patients treated with temozolomide at the(More)
We performed a multicentric study to assess the impact of two different culture procedures on the detection of chromosomal abnormalities in 217 consecutive unselected cases with chronic lymphocytic leukemia (CLL) referred for routine analysis either at the time of diagnosis (n = 172) or during disease evolution (n = 45). Parallel cultures of peripheral(More)
Duplication of chromosome 19, partial or complete, has rarely been described. Trisomy of its short arm (19p) was briefly reported in abstract form by Byrne et al in 1980 in a newborn patient with dysmorphism and intrauterine growth retardation and in 1992 by Salbert et al in a dysmorphic newborn male. The delineation of these two patients was hampered by(More)
We report a new case of giant cell ependymoma (GCE) of the thoracic spinal cord. Ependymomas predominate in children and young adults and are frequently intracranial and infra-tentorial. However, a second age peak at 30–40 years is reported for spinal tumours. Microscopically, ependymomas show a large variety of histological features, among which a rare(More)
We report on a fetus with multiple congenital anomalies detected at the prenatal ultrasound examination and a trisomy 6 mosaicism in the amniocytes. The pregnancy was interrupted in the 18th gestational week and the autopsy revealed malformations including cleft right hand, arthrogryposis and hypoplasia of the 4th digit of the left hand, syndactylies and(More)
Plasmacytoid dendritic cells (PDC) belong to a subtype of dendritic cells that are normally absent in healthy skin. In some inflammatory diseases of the skin, especially lupus erythematosus (LE), these cells are occasionally recruited in great amounts, which can be used as a helpful clue for diagnosis. Rarely, PDC may also accumulate in the skin of patients(More)
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