RESUMEN
OBJECTIVE: To evaluate the heredity factor of the chronic venous disorders and odds ratio linked to maternal or paternal heredity. METHODS: Cross-sectional epidemiological study conducted in daily practice of medical practitioners on all patients consulting them. The practitioners described the venous status of all patients consulting them and recorded the familial past history of venous disease. RESULTS: Among 21319 patients, 60.4% have a familial history of chronic venous disorder: unilateral paternal 7.5%, unilateral maternal 40.9% and bilateral: 12.0%. Chronic venous disorder prevalence is 58.8% in the global population, 38.2% in the absence of parental history, 67.0% for unilateral paternal, 71.3% for unilateral maternal and 79.2% for bilateral (p < 0.0001). After adjustment on age and sex, results show significant (p < 0.0001) odds ratio of 3.2 for unilateral paternal, of 3.4 for unilateral maternal and of 5.6 for a history in both parents. In the context of a history in both parents, the odds ratio increased to 5.6 for women and 8.4 for men. CONCLUSION: This large cross-sectional study confirms the association between heredity and venous disease, but its results could call into question the maternal predominant character of the chronic venous disorder heredity.
Asunto(s)
Insuficiencia Venosa/epidemiología , Insuficiencia Venosa/genética , Adulto , Anciano , Enfermedad Crónica , Estudios Transversales , Femenino , Francia/epidemiología , Humanos , Masculino , Persona de Mediana Edad , Insuficiencia Venosa/patologíaRESUMEN
We present the prenatal diagnosis of a chromosome 11q14.3-q22.1 deletion identified in three generations without apparent phenotypic consequences. A 25-year-old G2, P1 woman underwent amniocentesis at 15 weeks' gestation because of a positive result for Down syndrome maternal serum-screening test (1/70). The fetal karyotype revealed an interstitial deletion of the long arm of chromosome 11 confirmed by CGH and FISH: 46,XX,del(11)(q14.3q22.1). The mother and grandfather of the fetus presented the same interstitial deletion with a little if any phenotype effect. The pregnancy was carried to term and resulted in the birth of a normal girl. To our knowledge, only one case of a chromosome 11q14.3-q21 deletion without phenotypic anomalies has been reported. Our study allows the initially described haplosufficient region to be extended from 3.6 Mb to at least 8.5 Mb. This large deletion was compatible with fertility and apparently normal phenotype. Identification of such chromosomal regions is important for prenatal diagnosis and genetic counseling.
Asunto(s)
Deleción Cromosómica , Cromosomas Humanos Par 11/genética , Amniocentesis , Bandeo Cromosómico , Mapeo Cromosómico , Pintura Cromosómica , Femenino , Asesoramiento Genético , Haploidia , Humanos , Recién Nacido , Cariotipificación , Masculino , Fenotipo , EmbarazoRESUMEN
BACKGROUND: We report on a fetus with radiographic features of Larsen Syndrome (LS) and unbalanced 3;5 translocation. Recently LS was shown to be caused by mutations in FLNB gene which maps on 3p14.3. METHODS: Comparative genomic hybridization (CGH) was performed to search for genomic imbalances. Fluorescence in situ analysis (FISH) was done with BAC clone RP11-754F19 probe from the FLNB gene region (3p14.3). RESULTS: CGH showed a large loss of the chromosome 5 short arm and a gain of half of the short arm of chromosome 3 resulting from a derivative chromosome 5. FISH analysis with FLNB probe demonstrated that it was not triplicated. Thus, we excluded the role of a gene dosage effect of FLNB in abnormal craniofacial development in this fetus. CONCLUSIONS: To our knowledge, this is the first report of Larsen-like phenotype associated with unbalanced translocation resulting in partial trisomy 3p and monosomy 5p.