Familial reciprocal translocation t(7;16) associated with maternal uniparental disomy 7 in a Silver-Russell patient.

We present the case of a maternal heterodisomy for chromosome 7 in the daughter of a t(7;16)(q21;q24) reciprocal translocation carrier. The proband was referred to the hospital for growth retardation and minor facial dysmorphism without mental retardation. A diagnosis of Silver-Russell syndrome was suspected. Chromosomal analysis documented a 46,XX,t(7;16)(q21;q24)mat chromosome pattern. Microsatellite analysis showed a normal biparental inheritance of chromosome 16 but a maternal heterodisomy of chromosome 7. Occurrence of uniparental disomy (UPD) is a well-recognized consequence of chromosomal abnormalities that increase the rate of meiotic nondisjunction, mainly Robertsonian translocations and supernumerary chromosomes. Although reciprocal translocations should, theoretically, be also at increased risk of UPD, only three cases have been reported so far. However, because the association between uniparental disomy and reciprocal translocation may exist with an underestimated frequency, prenatal diagnosis is recommended when clinically relevant chromosomes for UPD are involved.

[First steps towards a comparative evaluation of the French medical schools]. / Etude comparative des facultés de médecine en France : premiers résultats.

CONTEXT: AERES has achieved the first comparative study of the French medical schools based on the analysis of both teaching performance and research activity. METHODS: The human resources considered in the evaluation are full-time, tenured, university hospital teaching staff (TUHT), professors or lecturers, and are meaningful only if the number of students is considered. The estimated number of students is based on the Numerus Clausus (NC), number of students allowed each year to enter in the second year of medical studies. Teaching performance of each faculty is based on the success of their students in a national ranking examination (Examen Classant National - ECN), at the end of their second cycle of medical studies which allows them to choose, for their third specialising cycle of medical studies, the specialty and region of practice. Research activity is estimated on the SIGAPS score of the medical school based on the number and impact factor of the scientific papers produced for five years running by the full-time professors and lecturers of each medical school, the number of national clinical research projects (PHRC) they have conducted during the three past years and the number of research units headed by these professors labelled by CNRS and INSERM. RESULTS: French medical school characteristics are markedly different in the number of university-hospital teaching staff, teaching performances and research activities. Numerous teaching staff and labelled research units have a beneficial influence on research activity and teaching results. The impact on teaching results is less statistically significant than that on research activity. A medical school mapping is then outlined. PROSPECT: More precise analysis of the observed differences between medical schools will allow propose recommendations.