RESUMO
We report a familial cryptic reciprocal translocation between 4q35 and 10p15 leading to deletion of the terminal long arm of chromosome 4 and duplication of the terminal short arm of chromosome 10 in two family members who both have immunological disturbances and a similar facial appearance. The precise location and extent of the deletion and duplication was determined by fluorescence in situ hybridization (FISH). Furthermore, we investigated the deletion breakpoint of a previously reported patient with 4q34.3-qter deletion [Van Buggenhout et al. (2004); Am J Med Genet Part A 131A:186-189].
Assuntos
Anormalidades Múltiplas/genética , Cromossomos Humanos Par 10/genética , Cromossomos Humanos Par 4/genética , Síndromes de Imunodeficiência/genética , Deficiência Intelectual/genética , Fenótipo , Translocação Genética/genética , Anormalidades Múltiplas/patologia , Adolescente , Adulto , Feminino , Humanos , Hibridização in Situ Fluorescente , Deficiência Intelectual/patologia , LinhagemRESUMO
Balanced complex chromosomal rearrangements (BCCR) encompass a heterogeneous group of rare chromosomal aberrations. In this paper, we report three cases of BCCRs. In two the probands were referred for either genetic counseling or prenatal management. One case was ascertained after chromosome analysis performed because of psychiatric manifestations; this was an isolated finding. We also outline the molecular cytogenetic techniques, which were essential in confirming and precisely delineating the BCCRs identified in these patients. In addition the various aspects of genetic counseling for this type of chromosomal rearrangement, highlighting the details particular to each individual case are discussed. We discuss the classification for this type of chromosomal mutation.
Assuntos
Anormalidades Múltiplas/genética , Transtorno Autístico/genética , Quebra Cromossômica , Transtornos Cromossômicos/genética , Cromossomos Humanos/ultraestrutura , Transtornos Psicomotores/genética , Aborto Habitual/genética , Adulto , Criança , Pré-Escolar , Coloração Cromossômica , Cromossomos Humanos/genética , Feminino , Aconselhamento Genético , Humanos , Masculino , Modelos Genéticos , Mutagênese Insercional , Hibridização de Ácido Nucleico , Translocação GenéticaRESUMO
AIMS: This investigation was set up to study the prevalence of left ventricular hypertrophy in a hypertensive population with reference to a normotensive control group. From the general population 3498 men and women aged 35, 45, 55 and 65 years old were invited to a health examination. Participants with blood pressure above 160 mmHg systolic or 95 mmHg diastolic or those taking antihypertensive medication or having done so during the previous 6 months were asked to undergo an echocardiographic examination. Normotensive controls were randomly selected from the same population. Of 552 participants in the final study population, 194 were normotensive controls and 358 were in the hypertensive group. Echocardiographic measurements were made according to the Penn conventions and indexed for body surface. Cut-off values for left ventricular hypertrophy were 134 g.m-2 for males and 102 g.m-2 for women. RESULTS: Overall, the prevalence of left ventricular hypertrophy was 14%/20% (men/women) in normotensives and 25%/26% in hypertensives (P < 0.01). After subdivision by age and sex, there was a significant difference in the prevalence of left ventricular hypertrophy between normotensives and hypertensives only in the 65-year-old group (P < 0.02 for males and P < 0.05 for females). CONCLUSIONS: The association between blood pressure and left ventricular hypertrophy in the general population is weak. Left ventricular hypertrophy is only significantly more frequent among hypertensives as compared to normotensives in older people.