Cytogenetic analysis of 5572 patients referred for suspected chromosomal abnormalities in Morocco.

Objectives: The aim of this study was (1) to identify the profile of patients being referred for cytogenetic analysis in Morocco, (2) to determine the prevalence and type of chromosomal abnormalities in the different groups, (3) to compare the results with those of similar studies done in other countries.

Material And Methods: 5572 patients ranging from newborns to 50 years of age were referred to the department of medical genetics, of the Moroccan National Institute of Health between 1993 and 2010, with a variety of clinical disorders such as mental retardation; multiple congenital malformations; clinical features of Down syndrome, Turner's syndrome, and Klinefelter syndrome; ambiguous sex; sterility; amenorrhea; recurrent miscarriage; and chromosome breakage syndromes.

Results: Of the 5572 cases studied, 4068 (73%) had a normal karyotype and 1504 (27%) had chromosomal abnormalities.

Frequencies of CYP3A5*1/*3 variants in a Moroccan population and effect on tacrolimus daily dose requirements in renal transplant patients.

The cytochromes P450 are a superfamily of oxidative enzymes, which are implicated in the metabolism of a large number of endogenous substances as well as exogenous chemicals. The cytochrome P450 (CYP3A5) appears to play an important role in drug metabolism activity. The most frequent mutation in the CYP3A5 gene, affecting its activity, consists of a G6986A transition within intron 3.

Unexpected fertility and paternal UPD 22.

Objective: To investigate and explain unexpected fertility in a man with der(22;22)(q10;10q).

Design: Lymphocyte cultures, cytogenetic preparation, microsatellite genotyping analysis, affiliation test using AmpFlSTR Profiler PlusTM PCR amplication.

Setting: Research laboratory.