Caroline Piquet

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Microdeletion of 22q11 is responsible for DiGeorge syndrome, velocardiofacial syndrome, congenital conotruncal heart defects, and related disorders. Familial transmission accounts for about 10-20 per cent of cases and most of the parents with deletions are nearly asymptomatic. This phenotypic variability makes it difficult to give appropriate genetic(More)
Proteus syndrome, a disorder which consists of skeletal, hamartomatous and other mesodermal malformations proves to be tremendously variable. Although most of the patients show deformities at birth, the diagnosis is usually made later in life as the phenotype develops over time. We report on the case of a fetus presenting in utero, with a cystic abdominal(More)
Chorionic villus sampling is now an acceptable alternative to second trimester amniocentesis. Several reports have raised concerns about the occurrence of discrepancies between the chorionic villi and fetal chromosomal constitution, which adds multiple diagnostic complexities to the process of prenatal genetic counselling. We report on a series of 26 cases(More)
OBJECTIVE Bowing of the long bones can be easily detected on antenatal ultrasound screening, but it is a nonspecific sign that can be associated with a variety of conditions, each denoting a different prognosis. Among these conditions, three well-differentiated bone dysplasias share bowed long bones as a main clinical manifestation. Campomelic dysplasia and(More)
OBJECTIVE To document two cases of respiratory depression in patients receiving morphine once the stimulating effect of pain on respiration was removed by bupivacaine. CASE SUMMARIES Case 1: A 72-year-old 84-kg white man with cancer of the bladder and bone metastases had intense back and leg pain that was treated with intrathecal morphine for 6 months at(More)
This article describes new aspects of hysteresis dynamics which have been uncovered through computer experiments. There are several motivations to be interested in fast-slow dynamics. For instance, many physiological or biological systems display different time scales. The bursting oscillations which can be observed in neurons, beta-cells of the pancreas(More)
A case of false-negative discrepancy between results of chorionic villi (direct preparation) and those of fetal tissue with an isochromosome 18q [i(18q)] in amniotic cells and fetal blood is reported. Fluorescence in situ hybridization (FISH) confirmed this uncommon chromosomal rearrangement. The fetus showed cyclopia and multiple congenital anomalies which(More)
We report on a large family (4 generations), with 77 studied individuals, 9 mentally retarded males, and one affected female with fragile X syndrome [fra(X)]. The analysis of 6 flanking polymorphic DNA markers showed that the affection is transmitted, through the carrier daughters to the grandsons and the greatgrandsons and that the great-grandfather is a(More)