Subject(s)
Abnormalities, Multiple/genetics , Aneuploidy , Chromosomes, Human, Pair 21/genetics , Intellectual Disability/genetics , Abnormalities, Multiple/pathology , Abnormalities, Multiple/physiopathology , Adult , Child, Preschool , Chromosome Banding , Chromosome Breakage/genetics , Down Syndrome/genetics , Female , Humans , In Situ Hybridization, Fluorescence , Infant , Infant, Newborn , Intellectual Disability/physiopathology , Male , Middle Aged , Nucleic Acid Hybridization , Phenotype , Physical Chromosome Mapping , Pregnancy , SyndromeSubject(s)
Chromosomes, Human, Pair 16/genetics , Chromosomes, Human, Pair 6/genetics , Telomere/genetics , Translocation, Genetic , Adult , Chromosome Banding , Chromosome Breakage/genetics , Family Health , Fatal Outcome , Female , Humans , In Situ Hybridization, Fluorescence , Infant , Karyotyping , Male , PedigreeABSTRACT
We present a new strategy for the detection of subtelomeric rearrangements. This approach is based on two hybridizations with different probe sets. The first set consists of microdissected subtelomeric probes (each 5-10 megabases in size) labeled combinatorially employing 7 different fluorochromes. With this set, subtelomeric interchromosomal exchanges can be detected in a 24-color experiment. The second set comprises a second generation of subtelomeric PAC-, P1- and BAC-clones. Probes for p- and q-arms are labeled with two different colors. This second set detects small deletions; in addition it provides regional information, so that translocated material identified by the first probe set can be assigned to the p- or q-arm of a chromosome. The test has been evaluated in a blind study on a series of subtle translocations and deletions.
Subject(s)
Chromosomes, Human/genetics , Telomere/genetics , Translocation, Genetic , Chromosome Painting , Humans , Metaphase , Sequence DeletionABSTRACT
In the search for genetic causes of mental retardation, we have studied a five-generation family that includes 10 individuals in generations IV and V who are affected with mild-to-moderate mental retardation and mild, nonspecific dysmorphic features. The disease is inherited in a seemingly autosomal dominant fashion with reduced penetrance. The pedigree is unusual because of (1) its size and (2) the fact that individuals with the disease appear only in the last two generations, which is suggestive of anticipation. Standard clinical and laboratory screening protocols and extended cytogenetic analysis, including the use of high-resolution karyotyping and multiplex FISH (M-FISH), could not reveal the cause of the mental retardation. Therefore, a whole-genome scan was performed, by linkage analysis, with microsatellite markers. The phenotype was linked to chromosome 16p13.3, and, unexpectedly, a deletion of a part of 16pter was demonstrated in patients, similar to the deletion observed in patients with ATR-16 syndrome. Subsequent FISH analysis demonstrated that patients inherited a duplication of terminal 3q in addition to the deletion of 16p. FISH analysis of obligate carriers revealed that a balanced translocation between the terminal parts of 16p and 3q segregated in this family. This case reinforces the role of cryptic (cytogenetically invisible) subtelomeric translocations in mental retardation, which is estimated by others to be implicated in 5%-10% of cases.
Subject(s)
Abnormalities, Multiple/genetics , Chromosome Deletion , Intellectual Disability/genetics , Translocation, Genetic/genetics , Adolescent , Adult , Child , Chromosomes, Human, Pair 16/genetics , Chromosomes, Human, Pair 3/genetics , Female , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Lod Score , Male , Middle Aged , Pedigree , Syndrome , TelomereABSTRACT
Two genes responsible for a nonspecific form of X-linked mental retardation (MRX28 and MRX33) were localized by linkage analysis with 40 highly polymorphic DNA markers situated along the entire the X chromosome. In family 1, the gene could be mapped within a 14-cM interval at Xq28, distal to the recombining marker DXS1113 (MRX28). The maximum LOD score was 2.75, with DXS52 at phi = .0. In family 2, the gene was localized within a 30-cM interval at Xp11.4-22.12 between the recombining markers DXS365 and MAOB, including the DMD gene (MRX33). Maximum LOD scores of 2.82 were obtained with markers DMD-STR49, DMD-DysII, CYBB, and DXS1068.
Subject(s)
Chromosome Mapping , Genetic Linkage , Intellectual Disability/genetics , X Chromosome , Child, Preschool , DNA , Female , Genetic Carrier Screening , Humans , Infant , Lod Score , Male , PedigreeSubject(s)
Blood Glucose/analysis , Diabetes Mellitus/diagnosis , Reagent Strips , Diabetes Mellitus/blood , HumansSubject(s)
Pregnancy in Diabetics/therapy , Blood Glucose/metabolism , Combined Modality Therapy , Diabetes Mellitus, Type 1/therapy , Diet, Diabetic , Female , Humans , Infant, Newborn , Insulin/blood , Insulin/therapeutic use , Insulin Infusion Systems , Maternal-Fetal Exchange/drug effects , Pregnancy , RiskABSTRACT
Spectral analysis provides a description of the moments of random signals and enables the characterization of the behaviour of systems in terms of input-output relations. The merits of such an approach in the study of signal transmission in skeletal muscle are described in this paper. The representation of neural spike trains as impulse sequences and the subsequent treatment appropriate for this kind of analysis are discussed together with some practical problems. Spectral analysis of muscle afferent signals is applied to data obtained from cat experiments, and the use of the related frequency-domain techniques is demonstrated on a subsystem of the stretch reflex.
Subject(s)
Muscles/innervation , Neurons, Afferent/physiology , Neurophysiology/methods , Action Potentials , Animals , Cats , MathematicsABSTRACT
Perinatal mortality in diabetic pregnancy has decreased markedly over the past 25 years; this reduction in fetal loss can be attributed to a variety of advances. These include technologic advances in obstetrics and pediatrics, as well as greater understanding of the metabolic aberrations occurring in pregnancy complicated by diabetes. Basically it seems convenient to consider the various disorders in cases of diabetes in pregnancy from several points of view: 1. the effect of pregnancy on the maternal diabetes and 2. the effect of maternal diabetes on the pregnancy and especially on the fetus, and from the above results we can consider 3. an actual procedure in the care of diabetic pregnancy. Regarding the necessary criteria in the care of pregnant diabetics neither pregnancy nor delivery will cause any serious problems.
