Skin pigmentary anomalies and mosaicism for an acentric marker chromosome originating from 3q.

We report on a 22 year old man with hyperpigmentation distributed along the lines of Blaschko in whom cytogenetic analysis showed mosaicism for an unusual supernumerary marker chromosome. The patient was of normal intelligence and was not dysmorphic. The marker was present in 30% of his lymphocytes and in 6% of his skin fibroblasts from a dark area, while fibroblasts from a light area showed a normal karyotype, 46,XY.

Prenatal diagnosis by FISH of a 22q11 deletion in two families.

We report on prenatal diagnosis by FISH of a sporadic 22q11 deletion associated with DiGeorge syndrome (DGS) in two fetuses after an obstetric ultrasonographic examination detected cardiac anomalies, an interrupted aortic arch in case 1 and tetralogy of Fallot in case 2. The parents decided to terminate the pregnancies. At necropsy, fetal examination showed characteristic facial dysmorphism associated with congenital malformations, confirming full DGS in both fetuses.

[Turner syndrome: mosaic and isochromosome q in a young African woman].

The authors describe the first case reported in Ivory Coast of an 18-year-old African girl for a small size and amenorrhea and failure to reach puberty. There was no dysmorphism. The uterus was infantile.

Karyotypes of 1142 couples with recurrent abortion.

Cytogenetic analysis was performed on 1142 couples with recurrent pregnancy loss. The frequency of major chromosomal abnormalities per couple was 4.8%.

[1st case of eosinophilic meningitis in Ivory Coat with the presence of a Parastrongylus sp. in the cerebrospinal fluid].

The authors report the first observation, in West Africa, of eosinophilic meningitis in an ivorian child who ingested raw Achatina sp. The presence of a Parastrongylus. sp.