ABSTRACT
Obsessive compulsive disorder (OCD) is a complex psychiatric disease characterized by recurring obsessions or compulsions that cause significant distress to the patient. The etiology of this disorder remains largely unknown, although a genetic component has been suggested. Many candidates genes have been evaluated based on a possible serotoninergic and dopaminergic brain dysfunction. We postulate the micro opioid receptor (MOR) gene as a candidate because some observations support a role of the opioid system in OCD. The opioid antagonist, naloxone, rapidly exacerbates OCD symptoms and the opioid agonist, tramadol, was reported to be effective in the treatment of some patients. We studied two single nucleotide polymorphisms (C17T and A118G) in 51 trios with OCD. Genotyping was analyzed with transmission desequilibrium test (TDT). The allelic variant +17T of the C17T polymorphism had a low frequency (1%) in our population that did not allow for statistic analysis. However, for the allelic variant +G of the A118G polymorphism we were able to performed statistical comparisons. Our results showed a trend toward significance (chi(2) McNemar = 3.6, P = 0.065) for TDT in patients with comorbid tics. It is an interesting finding that should be tested in a larger sample of OCD patients with tics.
Subject(s)
Genetic Predisposition to Disease/genetics , Obsessive-Compulsive Disorder/genetics , Receptors, Opioid, mu/genetics , Tics/complications , Adult , Alleles , Female , Gene Frequency , Genotype , Humans , Linkage Disequilibrium , Male , Obsessive-Compulsive Disorder/complications , Polymorphism, Single NucleotideABSTRACT
The case of a girl with cloverleaf skull (CLS) and multiple congenital anomalies is reported. Both parents have a history of drug use. Maternal cocaine abuse during the first trimester of pregnancy was obvious, and other drugs, such as marihuana and alcohol, were also taken by the mother. Many central nervous system malformations have been reported in association with cocaine abuse, the most severe being midline defects and neural tube defects. To our knowledge this is the first case reported of CLS anomaly associated with drug exposure. We also describe other anomalies not previously reported in association with CLS.
Subject(s)
Abnormalities, Drug-Induced/etiology , Cocaine-Related Disorders/physiopathology , Craniosynostoses/etiology , Pregnancy Complications/physiopathology , Prenatal Exposure Delayed Effects , Brain/abnormalities , Cocaine/adverse effects , Fatal Outcome , Female , Fetus/drug effects , Humans , Infant, Newborn , PregnancyABSTRACT
The purpose of the present study was to use the FISH method to establish the origin of chromosome aberrations currently unidentifiable by routine banding procedures. It was done in 13 cases with structurally rearranged chromosomes, seven of them with non-satellited marker chromosomes; in two of the latter an isochromosome 18p was identified which was consistent with a clinical picture of a tetrasomy 18p. FISH with chromosome-specific painting probes showed a deletion 18q in a girl with a cytogenetically balanced t(8;18). Two patients with deletions and two with 18 ring chromosomes were studied using a telomeric probe: both deletions had telomeric integrity and telomeric material was not present in the 18 rings. In a patient with an abnormal chromosome 18, the FISH analysis confirmed a pericentric inversion. We conclude from these results that FISH can provide a rapid and unequivocal cytogenetic diagnosis, which may improve genetic counseling.
Subject(s)
Chromosome Aberrations , Chromosome Aberrations/genetics , Chromosome Disorders , Chromosomes, Human, Pair 18/ultrastructure , In Situ Hybridization, Fluorescence , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/genetics , Abnormalities, Multiple/pathology , Child , Chromosome Aberrations/diagnosis , Chromosome Aberrations/pathology , Chromosome Inversion , Chromosomes, Human, Pair 8/ultrastructure , DNA Probes , Female , Humans , Intellectual Disability/diagnosis , Intellectual Disability/genetics , Intellectual Disability/pathology , Karyotyping , Male , Ring Chromosomes , Telomere/genetics , Translocation, GeneticABSTRACT
Two cases with an extra small metacentric chromosome are described. Classic cytogenetic analysis was insufficient for identification of the marker origin. High resolution banding and fluorescence in situ hybridization (FISH) using a chromosome specific painting probe indicated that both marker chromosomes originated from chromosome 18. The correlation between phenotype, cytogenetics and FISH results allowed us to conclude that the patients are tetrasomic for 18p. A comparison of the clinical features of our two patients with other twelve previously reported patients where tetrasomy 18p was confirmed, is also presented.
