Trisomy 9 mosaicism in two girls with multiple congenital malformations and mental retardation.

Two girls with mosaicism for an extra chromosome 9 are reported. Clinical findings included growth and mental retardation, facial dysmorphism, delayed ossification, single flexion crease, gastro-oesophageal reflux in one girl, and ventricular and atrial septal defects in the other patient. These findings are compared to the other previously reported cases of trisomy 9 mosaicism.

[Cerebral tumors of primitive germinal origin].

The authors attempt to justify the term cerebral tumour of primitive germinal origin from four of their own cases and a review of the literature. They emphasise the specific features. The tumours are more common in boys and involve the pineal, the walls of the third ventricle, the hypothalamus and the posterior pituitary.

Autophagia in myeloid precursors: an explanation for neutropenia in Chediak-Higashi syndrome?

Neutropenia is an almost constant feature of Chediak-Higashi syndrome (CHS). There is evidence for a central mechanism of neutropenia. Ultrastructural studies of the bone marrow from a child with CHS showed marked autophagic phenomena within myeloid precursor cells and mature neutrophils.

[Chediak-Higashi syndrome. Study of lymphocyte transformation stimulated by phytohemaglutinin (PHA)].

The reactivity to PHA stimulation of peripheral blood lymphocytes from a child with a Chediak-Higashi syndrome was studied. Lymphocyte transformation was assayed by tritiated-thymidine incorporation. Patient lymphocytes reacted to much lower concentrations of PHA than normal controls.