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We report on two father-son pairs with isolated nonsyndromal asplenia. This may represent autosomal dominant inheritance of a mutation in a gene involved with spleen development and determination of laterality. The incidence of hereditary isolated asplenia is unknown; therefore, screening for asplenia in first degree relatives of individuals with (poly)asplenia should be considered.
A father and his son presented with ventricular tachycardia of left bundle-branch block configuration, two years apart. The patients had no clinical signs of right or left ventricular dysfunction. The diagnosis of arrhythmogenic right ventricular dysplasia was based on right ventricular angiographic and radionuclide findings. Microscopic sections obtained at surgery for the ventricular tachycardia in the father revealed abnormal infiltration of fat and focal fibrosis in the right ventricular myocardium, confirming the diagnosis. The importance of thorough evaluation of right and left ventricular function and structure in patients with ventricular tachycardia of right ventricular origin is emphasized. Currently available diagnostic techniques and management are presented.
To determine the positive and negative classification error rates associated with the HTA in our laboratory, F1 sons of TEM-exposed CD-1 male mice were evaluated by the sequential fertility method with subsequent cytogenetic analysis. Males who sired three litters of size 10 or less when mated to primiparous females from either the B6C3F1 or the BCF1 strain were classified as partial steriles. When meiotic chromosome analyses revealed the presence of at least two cells containing multivalent figures, males were classified as translocation heterozygotes. When the fertility evaluation and the cytogenetic analysis were compared, normal fertility was observed on 5 of 83 (6.02%) translocation-bearing F1 males mated to B6C3F1 tester females and on 3 of 83 (3.61%) F1 males mated to BCF1 tester females. Thus, the false-negative error rates were 6.02% and 3.61% with these two tester strains. Multivalent figures were not observed in the meiotic chromosomes of 410 F1 males. Of these, 12 (2.93%) had reduced fertility when mated to the B6C3F1 tester strain as did 7 (1.71%) mated to the BCF1 strain. Thus, the false-positive error rates with these two tester strains were 2.93% for the B6C3F1 strain and 1.71% for the BCF1 strain. Our results indicate that non-zero error rates, both false-positive and false-negative, are associated with the sequential mating method HTA. In addition, the magnitude of these error rates was influenced not only by the tester female strain but also by the genotype of the F1 male.
Data from a Swedish male cohort born in 1953 is used to investigate the effects of teenage motherhood on later mental health and illness. Measures of coping ability and psychiatric impairment at the age of 19 years and of hospitalization with a psychiatric diagnosis at ages 20-30 show that the sons of teenage mothers have a poorer health record than those born to older women. The differences disappear, however, when controls are introduced for the marital and socio-economic status of the boys' mothers, and the data suggest that teenage motherhood is not associated with poor outcomes in the absence of other predisposing factors.
The solution structure of the pleckstrin homology (PH) domain of mouse Son-of-sevenless 1 (mSos1), a guanine nucleotide exchange factor for Ras, was determined by multidimensional NMR spectroscopy. The structure of the mSos1 PH domain involves the fundamental PH fold, consisting of seven beta-strands and one alpha-helix at the C terminus, as determined for the PH domains of other proteins. By contrast, the mSos1 PH domain showed two major characteristic features. First, the N-terminal region, whose amino acid sequence is highly conserved among Sos proteins, was found to form an alpha-helix, which interacts with the beta-sheet structure of the fundamental PH fold. Second, there is a long unstructured loop between beta3 and beta4. Furthermore, the mSos1 PH domain was found to bind phosphatidylinositol-4,5-bisphosphate by a centrifugation assay. The addition of inositol-1,4,5-trisphosphate to the mSos1 PH domain induced backbone amide chemical shift changes mainly in the beta1/beta2 loop and the N- and C-terminal parts of the long beta3/beta4 loop. This inositol-1,4,5-trisphosphate-binding mode of the mSos1 PH domain is somewhat similar to those of the PH domains of pleckstrin and phospholipase Cdelta1, and is clearly different from those of other PH domains.
"This paper investigates the impact of preferences for male offspring to female offspring upon the sex ratio of the population. Asymmetric procreation behaviour of this kind is modelled by assuming that a female's procreation ceases only after at least one son or n daughters are born. It is shown that such asymmetric procreation behaviour has no effect on the sex ratio of the society, but influences rather the growth rate of the population. Finally, problems concerning the interrelationship between the sex ratio, the pattern of procreation, and the marriage regime in stationary populations are investigated."
We describe a reciprocal translocation (10;13) in a man, ascertained through the study of meiosis in semen, and a partial trisomy 10q in his abnormal son. The phenotypic anomalies of the partial 10q trisomy syndrome are probably due to the presence in triplicate of the region q25 = to qter of chromosome 10.
A child with impaired intelligence, minor dysmorphisms, obesity and genital hypoplasia was found to have an apparently balanced translocation, 46,XY,t(4;14)(q12;q13), following cytogenetic analysis. The same rearrangement was also detected in the child's father, who had similar phenotypic abnormalities to his son. Detailed study of flow karyotypes produced from lymphoblastoid cell lines established that in both patients the translocation was in fact unbalanced with approximately 11 million base pairs of DNA (corresponding to about 6.0% of chromosome 4 or 11.0% of chromosome 14) being lost.
The Rubinstein-Taybi syndrome is a condition characterized by mental retardation, typical facial changes and broad thumbs and big toes. The cause is unknown; almost all cases are sporadic. We describe a mother and son with Rubinstein-Taybi syndrome. Literature search documented at least 413 cases with 558 sibs. An affected offspring has occurred at least twice, possibly six times. In 45 yet undescribed Dutch cases no recurrence was found in 94 sibs. A submicroscopic chromosome deletion seems the most probable explanation, but other alternatives may be possible.
This report presents a clinico-pathologic study of low-grade astrocytoma in father and son whose relatives had multiple sclerosis and Cockayne syndrome. The corresponding location within the rhombencephalon and the coincidence of tumor type probably imply that an endogenous genetic factor has influenced the astrocyte cell line.
Achalasia has not been previously reported in father and son. A man, age 38, and his father, age 66, presented two years apart with symptoms of dysphagia and aspiration. The diagnosis of achalasia was made on the basis of x-ray and endoscopic findings and on esophageal motility studies performed on the father. Both responded well to pneumatic dilatation and have been asymptomatic for 24 months and 6 months, respectively. These cases again suggest a genetic basis for achalasia.
Hirschsprung disease (HD) is genetically heterogeneous with approximately 4% familial occurrence. The recurrence risk is higher in patients with severe involvement. We describe the transmission of histotopochemically proven HD from a father with long aganglionic segment disease to a son with ultrashort segment disease. This observation suggests that the length of involvement in HD is related to the variable expression of the gene defect. It also suggests autosomal dominant inheritance of HD.
Typical Turcot's syndrome is characterized by the association of a brain glioma together with multiple colonic polyposis, in which the number of polypoid lesions is small and the association of colonic cancer occurs at a younger age than in familial adenomatous polyposis. We describe a family in which both the father and his son presented with typical Turcot's syndrome without parental consanguinity. This is the first report of a family that is considered to follow an autosomal dominant inheritance. After reviewing 25 documented cases in which the average age of death was 20.3 years old, it was learned that the major cause of death was brain tumor (76 percent) and the minor cause was colon cancer (16 percent). Patients were very young and, therefore, unlikely to have produced a child before their death. These facts seem to support the theory that Turcot's syndrome is an autosomal dominant disorder.
A 41 year old woman presented with dyspnoea at rest and swollen legs in the emergency room of our centre. She reported a history of slowly progressing dyspnoea and oedema in the legs. Physical examination showed signs of biventricular congestive heart failure and dysmorphia of the face. Routine laboratory examination revealed elevated CK levels without significant elevations of the CK-MB isoform. ECG showed complete left bundle branch block and first degree atrioventricular block. Echocardiography and angiography showed markedly reduced left ventricular systolic function, the ejection fraction was 25%. Coronary angiography excluded CAD and there was no evidence for congenital or valvular heart disease. The patient also reported a history of a serious complication during emergency general anaesthesia and cataracts of both eyes. Because of the clinical and chemical findings, the history of cataracts and complications during general anaesthesia, a systemic congenital disease of the muscular tissue was suspected. Molecular studies revealed a trinucleotide amplification at the myotonic dystrophy locus 19q 13.3, so the diagnosis myotonic dystrophy Curschmann-Steinert was established. The sixteen year old son of the patient suffered from an at this time unknown disease with retardation, muscular weakness and myotonia of the face. The diagnosis myotonic dystrophy was evident because of the clinical signs and the family history.
In the present study 161 Japanese father/son haplotype transfers in 147 pedigrees were analyzed at 14 Y-STRs with two multiplex PCR-based typing systems. Five isolated single repeat mutations were identified at the DYS389I, DYS439, Y-GATA-H4, DYS389II and DYS391 loci, and a pedigree showing triple alleles at the DYS385 locus (a duplicate locus) without allelic discrepancy between the father and son was also observed. The overall mutation rate estimated across the 14 Y-STRs in the Japanese population was 0.22%/locus/meiosis (95% C.I. 0.09-0.51%). This rate was not significantly different (p>0.05) from those of autosomal STRs and Y-STRs in other populations, including German, Austrian, Polish and Norwegian populations. Furthermore, 138 haplotypes were identified in 147 pedigrees with a haplotype diversity value of 0.9983. Therefore, a combination of the two systems should permit effective analysis with sufficient discriminatory power.
Five datasets consisting of samples jointly typed for Y-chromosomal Unique Event Polymorphism (UEP) and simple tandem repeat (STR) markers were re-examined with independent methods for dating the different UEP-defined lineages. We report on the results obtained with an original program which performs comparative dating (BARCODE) in comparison with coalescent analyses performed with BATWING under various prior conditions. For the first time these are equalized across datasets. We also report on the results concerning STR mutability as obtained with both methods. The dating results for the entire series of sub-haplogroups are highly correlated. Within coalescent analyses, dating-estimates under a wide range of priors tend to converge. As to STR mutation rates the main findings are: (1) large variations among loci within the same dataset with both methods, also when the same prior was used for all loci; (2) figures in most cases above 1x10(-3) and often above 2x10(-3); (3) a few loci that mutate differently across studies. These results closely match those obtained from direct observation of father-son transmissions. Overall, this work supports the use of genetic dating procedures that take into account the complexity of the phenomenon, with a repertoire of priors tailored on the particular dataset.
We conducted chromosomal analysis of three male infants fathered by severe oligozoospermic males with Y chromosomal microdeletions through intracytoplasmic sperm injection (ICSI). Two of the infants had the same Y chromosomal microdeletions as their fathers. The third infant also had a Y chromosomal microdeletion, which was longer than that found in his father. The results confirm that Y chromosomal microdeletions are transmitted from a father to a son via ICSI and also suggest that the microdeletions may be expanded during such transmission. Genetic counseling for infertile couples contemplating ICSI is important if the male carries Y chromosomal microdeletions.
The EEGs of young (21-25-year-old) sons of alcoholics and their matched controls (n = 24 pairs) were computer evaluated to assess activity in the 12-20 Hz (beta) range. Subjects were blindly exposed to ethanol and placebo drinks while EEG was gathered at baseline and 90 min postconsumption. Men with alcoholic fathers [family history positive (FHP)] displayed significantly more beta activity at 90 min postethanol consumption than the men who had no alcoholic relatives [family history negative (FHN)]. In addition, when subjects were sorted into "low" and "moderate" drinkers depending on their drinking practices, additional differences were found between groups. Within the FHN subjects, moderate drinkers were found to have significantly more energy in the beta frequencies at both baseline and at 90 min postdrug than low drinkers. However, though family history positive subjects had overall increases in 12-20 Hz activity compared with the FHN subjects, no significant differences were found between moderate and low drinkers within the FHP population. Taken together, these studies suggest that drinking practices and a familial history for alcoholism can modify the beta content of the EEG in the 12-20 Hz range in young men.