In Chlamydomonas, the maternal inheritance of chloroplast genes correlates with the differential methylation of chloroplast DNA (chlDNA) in females (mt(+)) but not in males (mt(-)). Our previous studies have supported our methylation-restriction model in which the maternal transmission is accounted for by the differential methylation in gametes which protects female but not male chlDNA from deg...

Colorectal carcinoma (CRC) is a common pathology in the adult population but remains very rare neoplasia childhood with delayed diagnosis and advanced stage grim prognosis that can be fatal, research regarding pediatric adenocarcinoma remain rare. IT represents approximately 1% of neoplasms. It usually associated predisposing genetic factors; this closely linked inheritance familial syndromes. ...

CASE REPORT A 17 year-old male patient, who since 2000 has referred to a progressive bilateral decrease in visual acuity. A "bicycle wheel" macula pattern was observed in his retina. The electroretinogram showed a decrease in the b-wave amplitude. The visual evoked potentials were normal. Optical coherence tomography showed bilateral macular edema. All this supported the diagnosis of X-linked r...

Neuroacanthocytosis denotes a group of uncommon heterogenous neurodegenerative disorders associated with acanthocytosis in the absence of any lipid abnormality. A variety of modes of inheritance have been proposed (X linked and autosomal recessive are clearly described, but a recent report of dominantly inherited chorea acanthocytosis appears to be caused by Huntington’s disease-like type 2 exp...

Neuroacanthocytosis denotes a group of uncommon heterogenous neurodegenerative disorders associated with acanthocytosis in the absence of any lipid abnormality. A variety of modes of inheritance have been proposed (X linked and autosomal recessive are clearly described, but a recent report of dominantly inherited chorea acanthocytosis appears to be caused by Huntington’s disease-like type 2 exp...

Observations are presented on a family with muscular weakness and wasting with an onset in childhood, predominantly affecting the proximal muscles in the upper limbs and the distal muscles in the lower. This was accompanied by contractures of the elbows and by pes cavus. Pseudohypertrophy was absent. Progression was slow, but an associated cardiomyopathy developed in adult life. Investigations ...

X-linked reticulate pigmentation disorder with systemic manifestations (XLPDR) is an extremely rare genodermatosis with recessive X-linked inheritance but unknown molecular basis. In males, cutaneous involvement is characterized by reticulate hyperpigmentation of the skin that is associated with a typical facies and severe systemic involvement. In the carrier females, manifestations are apparen...

Gyrate atrophy is a hereditary chorioretinal degeneration associated with a deficiency of ornithine aminotransferase (OAT). By means of a complementary DNA clone encoding human OAT, the OAT gene sequences were mapped by somatic cell hybrids and in situ hybridization to human chromosome regions 10q26 and Xp11.2. A review of 80 biochemically confirmed cases of gyrate atrophy confirmed the autosom...