RESUMEN
Primary microcephaly is thought to result from genetic defects of the developmental program that generates large brain hemispheres in humans. Autosomal recessive inheritance is likely in most familial cases, and four loci were recently mapped by homozygosity. We report homozygosity mapping of a new locus, MCPH5, with a maximum multipoint LOD score of 3.51 at marker D1S1723, in a family of Turkish origin. The minimal critical region spans 11.4 cM between markers D1S384 and D1S2655, at 1q25-q32, and encompasses the cytogenetic breakpoints of chromosomal aberrations previously reported in unrelated patients with microcephaly.
Asunto(s)
Cromosomas Humanos Par 1/genética , Genes Recesivos/genética , Ligamiento Genético/genética , Microcefalia/genética , Adulto , Rotura Cromosómica/genética , Mapeo Cromosómico , Femenino , Marcadores Genéticos , Homocigoto , Humanos , Recién Nacido , Escala de Lod , Masculino , Linaje , Turquía/etnologíaAsunto(s)
Cromosomas Humanos Par 15/genética , Microcefalia/genética , Adulto , Mapeo Cromosómico , Genes Recesivos , Haplotipos , Heterocigoto , Humanos , Masculino , LinajeAsunto(s)
Mapeo Cromosómico , Cromosomas Humanos Par 12/genética , Síndrome de Noonan/genética , Femenino , Haplotipos , Humanos , Masculino , Países Bajos , LinajeRESUMEN
Noonan syndrome is characterized by typical facies, short stature and congenital cardiac defects. Approximately half of all cases are sporadic, but autosomal dominant inheritance with variable expression is well established. We have performed a genome-wide linkage analysis in a large Dutch kindred with autosomal dominant Noonan syndrome, and localized the Noonan syndrome gene to chromosome 12 (Zmax = 4.04 at 0 = 0.0). Linkage analysis using chromosome 12 markers in 20 smaller, two-generation families gave Zmax = 2.89 at 0 = 0.07, but haplotype analysis showed non-linkage in one family. These data imply that a gene for Noonan syndrome is located on chromosome 12q, between D12S84 and D12S366.
Asunto(s)
Cromosomas Humanos Par 12 , Síndrome de Noonan/genética , Mapeo Cromosómico , Femenino , Genes Dominantes , Ligamiento Genético , Humanos , Masculino , LinajeRESUMEN
OBJECTIVE: To examine the potential of an adapted gamma camera to image cardiac uptake of the positron emitting glucose analogue fluorine-18 fluorodeoxyglucose (FDG). DESIGN: Postprandial studies were performed in 19 patients (mean age, 56 +/- 9 years) with coronary disease and resting cardiac dysfunction who had undergone a routine clinical 7 min/view planar thallium-201 (Tl-201) stress reinjection or rest redistribution study. A glucose/insulin protocol was used and, an hour after FDG injection, 15-minute static planar myocardial images were acquired in the four views used for Tl-201 scanning. RESULTS: The diagnostic quality of FDG images was at least as good as that of their Tl-201 counterparts, with less liver background in all but one FDG study. In the left anterior oblique 45 degrees view uncorrected global myocardial FDG and stress Tl-201 counts were similar, but the FDG study had significantly higher peak myocardial to background ratios. CONCLUSION: Assessing regional cardiac FDG uptake and myocardial perfusion seems feasible with conventional gamma camera technology, providing a widely available and cost effective means of detecting hibernating myocardium. Similar equipment may appreciably reduce the need for positron emission tomography in a range of clinical conditions.