Increased rigidity with age in social behavior of Java-monkeys (Macaca fascicularis).

In this study we investigated the effect of aging on the structure of behavior of socially housed Java-monkeys. Indices of the sequential structure of an animal's own ongoing behavior and of its responses to behavior of other animals were calculated using an information statistic approach. These indices reflect information-processing abilities of an animal, as they represent the ability of an animal to adjust its behavior in response to actions by interaction partners.

Aging, dominance history, and social behavior in Java-monkeys (Macaca fascicularis).

The aim of this study was to investigate the influence of the dominance history of socially housed Java-monkeys on the aging process. In monkeys, social subordinance is generally associated with elevated levels of cortisol, which, in turn, have been suggested to influence cognitive decline. As cognitive skills are necessary for successful social life, we investigated the effect of old age in relation to the dominance history of the animals on their social behavior by comparing old females with their younger daughters.

Differential kinship effect on reconciliation in three species of macaques (Macaca fascicularis, M. fuscata, and M. sylvanus).

Macaque societies are typically characterized by despotic dominance styles and strong bonds between related individuals. Interspecies variation in dominance style, however, has been recently documented. This study investigated whether kinship effects on social interactions vary depending on the species dominance style.

Methodological improvements for the study of reconciliation.

The present paper suggests methodological improvements for the study of reconciliation, i.e. affiliative interactions between former opponents shortly after agonistic conflicts.

[Early diagnosis of fragile X mental retardation syndrome].

Conducting an inquiry among 32 parents of 46 children with fragile-X mental retardation, we investigated the problems on early recognition of the syndrome. From the first call for medical help until establishment of the diagnosis, on average 2 years elapsed. The family history is very important, since in 82.

[Clinical, cytogenetic and molecular aspects of fragile X syndrome].

With a prevalence of 1:1400, the fragile-X syndrome is the most frequent hereditary cause of mental retardation in boys. In young children the clinical picture differs from that in adults. Some deterioration of intelligence level and disturbances of social behaviour are especially common in prepubertal patients.

Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations.

In 288 Dutch and Belgian Duchenne and Becker muscular dystrophy families, the parental origin of 41 new deletion or duplication mutations was determined. Twenty seven of the new mutations occurred in the maternal X chromosome and nine in the grandmaternal and five in the grandpaternal X chromosome. The grandparental data are compatible with equal mutation rates for DMD in male and female X chromosomes.

Y chromosome specific probes identify breakpoint in a 45,X/46,X,del(Y)(pter----q11.1:) karyotype of an infertile male.

An infertile male patient with a 45,X peripheral blood karyotype and a 45,X/46,X,del(Y)(pter----q11.1:) mosaic skin fibroblast karyotype is described. Steroid sulphatase (STS) activity was normal.

Prenatal diagnosis of Duchenne muscular dystrophy: a three-year experience in a rapidly evolving field.

Application of molecular genetic techniques has greatly increased diagnostic possibilities of hereditary disorders. In 1983 the first linkage of Duchenne muscular dystrophy with flanking DNA probes was described, which made carrier detection possible in a limited number of cases. The first published prenatal diagnosis for Duchenne muscular dystrophy dates from 1985.

Inheritance of poor phenytoin parahydroxylation capacity in a Dutch family.

The mode of inheritance of insufficient phenytoin p-hydroxylation was studied in the family of a patient who had previously suffered from a phenytoin intoxication caused by insufficient metabolism of this drug. This family was compared with a control group. The rate of phenytoin metabolism was derived from the phenytoin/metabolite ratio in serum 6 hours after an oral test dose of 300 mg phenytoin.

The fragile X-chromosome: an evaluation of the results in a routine cytogenetic laboratory in the period 1981-1986.

We report on the cytogenetic studies, performed in a routine cytogenetic laboratory between 1981 and 1986, on 428 subjects: 291 probands with non-specific mental retardation, 101 first-degree relatives of fra(X) positive patients and 36 non-retarded patients, referred for other reasons. As a rule 50 cells, cultured in folate-deficient medium were analysed. The results are compared with data collected from the literature and with the data expected from prior genetic risks and fra(X) penetrance.

Germline mosaicism and Duchenne muscular dystrophy mutations.

Duchenne muscular dystrophy (DMD) is a severe X-linked neuromuscular disease with an incidence of approximately 1 in 3,500 newborn boys. The DMD locus has a high mutation frequency: one third of the cases is thought to result from a new mutation. Linkage studies using probes to detect restriction fragment length polymorphisms and DNA deletion studies have greatly improved DMD carrier detection and prenatal diagnosis.

The fragile X syndrome in a large family. III. Investigations on linkage of flanking DNA markers with the fragile site Xq27.

In a large family with the fragile X syndrome, we performed linkage investigations with six probes, detecting RFLPs at both sides of the fragile site Xq27. The nearest flanking markers were cX55.7 (DXS105) on the centromeric side (theta = 0.

Efficient isolation of X chromosome-specific single-copy probes from a cosmid library of a human X/hamster hybrid-cell line: mapping of new probes close to the locus for X-linked mental retardation.

We isolated X-chromosomal DNA probes from a cosmid library constructed from a single human X/hamster hybrid-cell line (C12D). One hundred human clones were isolated and used to construct a pool of X-chromosomal DNA. This DNA was digested into 0.

The fragile X syndrome in a large family. II. Psychological investigations.

Intelligence levels and intelligence profiles were investigated in 52 members of a large family with the fragile X syndrome. The mental abilities were evaluated by the three Wechsler intelligence tests (WAIS, WISC-R, and WPPSI). Chromosomal and psychological data were then compared.

The fragile X syndrome in a large family. I. Cytogenetic and clinical investigations.

Cytogenetic and clinical investigations were performed in 85 members of a large family, in which 18 males and seven females were mentally retarded. In the male patients the fragile site Xq27 was found in 6 to 44% (mean 22.5%) of peripheral blood lymphocytes.

DNA probe analysis for carrier detection and prenatal diagnosis of Duchenne muscular dystrophy: a standard diagnostic procedure.

Thirteen marker loci localised on the short arm of the X chromosome are available for use in genetic studies for Duchenne muscular dystrophy (DMD). This large number of probes detecting about 20 RFLPs encouraged us to set up a standard procedure using a sequence of selected probes and restriction enzymes for the diagnosis of DMD families. The application of DNA probe analysis for carrier detection and prenatal diagnosis, involving 61 pedigrees of both familial and isolated cases, has yielded the following results.

Dermatoglyphic peculiarities in families with X-linked mental retardation and fragile site Xq27: a collaborative study.

The dermatoglyphic patterns of fingertips, palms and soles of 75 male patients with X-linked mental retardation and fra-Xq27 and of 28 obligate female heterozygotes were analyzed and compared with the data from 200 male and 200 female control individuals. The results show that there is a strong association between the fra-X-syndrome and dermatoglyphic peculiarities observed in male patients and also in female heterozygotes. The characteristic dermatoglyphic features of the fra-X-syndrome are: increased frequencies of radial loops, whorls and arches on the fingertips, a pronounced transversal course of palmar ridges, lower a-b RC, absence of c-triradii on the palms, abnormal palmar and plantar creases, dysplasia of the papillary ridges and low frequencies of true patterns on the soles.

Cerebral gigantism (Sotos syndrome) in two patients with fra(X) chromosomes.

Two boys were studied who had a large size at birth and/or overgrowth, unusual length, large head circumference and minor anomalies, mainly facial. Their mental development appeared mildly retarded. A clinical diagnosis of cerebral gigantism (Sotos syndrome) was made.

Segregation analysis of a translocation (16;21)(p11;q22) in a large pedigree.

A large family with an inherited reciprocal translocation (16;21) is described. An unbalanced karyotype due to adjacent-1 segregation was documented in 6 cases, whereas 25 children dying within the first year of life and 4 individuals dying at later ages probably had the same abnormality. Therefore minimal and maximal risk estimates were calculated to be 6.