Genetic landscape of Romanian PPGLs.

Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumours that originate from chromaffin cells and occur in the adrenal medulla and in the sympathetic or parasympathetic ganglia. Nearly 70% of PPGLs result from germline or somatic mutations in a single driver gene. The aim of this study was to characterize the genetic background and clinical characteristics related to genetic profile of patients with PPGLs from Romania.

RARE DOSAGE ABNORMALITIES - COPY NUMBER VARIATIONS FLANKING THE SHOX GENE.

Background: Molecular defects in the gene including deletions, duplications or pathogenic point mutations are responsible for well-known pathologies involving short stature as a clinical manifestation: Léri-Weill dyschondrosteosis, Langer mesomelic dysplasia, Turner syndrome or idiopathic short stature. Duplications flanking the gene (upstream or downstream of the intact gene involving conserved non-coding cis-regulatory DNA elements - CNEs) have been described but their clinical involvement is still difficult to understand.

Results: We describe two cases with short stature and normal GH-IGF1 status.

A Case of Inherited t(4;10)(q26;q26.2) Chromosomal Translocation Elucidated by Multiple Chromosomal and Molecular Analyses. Case Report and Review of the Literature.

We present a complex chromosomal anomaly identified using cytogenetic and molecular methods. The child was diagnosed during the neonatal period with a multiple congenital anomalies syndrome characterized by: flattened occipital region; slight turricephaly; tall and broad forehead; hypertelorism; deep-set eyes; down slanting and short palpebral fissures; epicanthic folds; prominent nose with wide root and bulbous tip; microstomia; micro-retrognathia, large, short philtrum with prominent reliefs; low set, prominent ears; and congenital heart disease. The GTG banding karyotype showed a 46,XY,der(10)(10pter→10q26.

Craniofacial morphological changes of familial bilateral hypodontia of maxillary premolars.

The hypodontia of a permanent tooth from a dental group represents a normal evolution in human dentition morphology. Nevertheless, the hypodontia of two teeth within a dental group is a rare developmental anomaly when not associated to a systemic syndrome. The aim of this study was to report two rare cases of four maxillary premolars hypodontia, not including the third molar, of two white women from the same family.

Inverted duplication deletion of 8P: characterization by standard cytogenetic and SNP array analyses.

Inverted 8p duplication deletions are recurrent chromosomal rearrangements that most often arise through non-allelic homologous recombination (NAHR) during maternal meiosis between segmental duplications made up of the olfactory receptor (OR) gene clusters. The presence of a paracentric inversion polymorphism in 8p23.1, found in approximately 26% of European population, may trigger meiotic misalignment and NAHR between the OR gene repeats.

Genotype- phenotype correlation in trisomy X: a retrospective study of a selected group of 36 patients and review of literature.

Unlabelled: Trisomy X (47,XXX) is a gonosomal aneuploidy characterized by the presence of an extra X chromosome in a female person. Usually the diagnosis is established made postnatally by chromosome analysis in patients with suggestive clinical signs. Clinical signs vary by age.

A case of turner syndrome associated with severe coarctation of the aorta.

Turner Syndrome (TS) is a chromosomal abnormality due to the complete or partial lack of chromosome X, with clinical polymorphic elements: small size, hypogonadism, various visceral abnormalities. About half of the cases may suffer from congenital heart abnormalities. We describe hereunder a case of TS diagnosed with coarctation of the aorta due to high blood pressure detected by accident.

Prenatal diagnosis of gonosomal anomalies: limitations of the FISH method and genetic counseling difficulties in 15 cases.

Unlabelled: Prenatal diagnosis (PD) by FISH or cell culture is today an important tool for the prevention of chromosomal anomalies. A difficult issue is prenatal detection of gonosomal anomalies. Most gonosomal anomalies neither affect life expectancy nor cause psychomotor retardation, but sexualization disorders and the lack of reproductive potential are a constant finding.

Phenotypic variability in Patau syndrome.

Unlabelled: Patau syndrome has an incidence of 1/10.000-20.000, the clinical diagnosis being suggested by the triad cleft lip and palate, microphthalmia/anophthalmia and postaxial polydactyly.

Ring autosomes: some unexpected findings.

Ring chromosomes are rare entities, usually associated with phenotypic abnormalities in correlation with the loss of genetic material. There are various breakpoints and sometimes there is a dynamic mosaicism that is reflected in clinical features. Most of the ring chromosomes are de novo occurrences.

[Improvement of genetic diagnostic strategy in velo-cardio-facial syndrome].

Unlabelled: Velo-Cardio-Facial Syndrome (VCFS) is characterized by congenital heart defects (CHD), palatal abnormalities, facial dysmorphism, neonatal hypocalcemia, immune deficit, speech and learning disabilities. SVCF is caused by microdeletion 22q11.2.

[Idiopathic mental retardation--importance of clinical diagnostic scores for case selection].

We present a retrospective study aimed to identify the correlation between de Vries clinical score and the detection of chromosomal abnormalities in mentally retarded (MR) children. We have used the score to identify patients who should be tested by karyotyping and subsequently MLPA (multiplex ligation dependent probe amplification) for subtelomeric rearrangements. Our group is formed of 36 children with variable MR associated with other anomalies.

[Clinical, epidemiological and cytogenetic studies on 221 patients with Down syndrome].

Unlabelled: Down syndrome, determined by 21 trisomy, represents a major cause of infantile morbidity and mortality.

Aim: The analysis of dysmorphic features in Down syndrome, incidence of major congenital abnormalities, of some epidemiological parameters and cytogenetic specifics.

Material And Method: Methods used were clinical, epidemiological and cytogenetical.

[Drug therapy at the beginning of the genomic era].

The individualisation of drug therapy according to the genetic profile of each patient would allow to avoid the adverse effects and to reach the maximum therapeutic efficiency, therefore an optimum risk/efficiency ratio. This desideratum has become feasible in the genomic era by identifying and mapping a true mononucleotid polymorphism signature DNA (single nucleotide polymorphism fingerprint--SNP) and by using the new technologies. The present day data regarding the polymorphism of the genetic determinants involved in the response to drugs are synthetically shown, as well as the defining of the new fields--pharmacogenetics and pharmacogenomics.