摘要:

The present report summarizes the experience on the mar(X) syndrome in a total of 157 male patients (44 prepubertal and 113 postpubertal) ascertained through 83 index patients from 83 families under investigation.1. In one third of the families pedigree data were consistent with X‐linked recessive inheritance. In the further two thirds of the families the presenting symptom was familial mental retardation with a mentally retarded mother, or mental subnormality with hyperkinetic behaviour in the male patient.2. No more than 60% of the adult males presented the typical clinical triad (mental retardation ‐long face ‐ megalotestes). The most characteristic finding in the mar(X) boy is the psychological profile with severe hyperkinetism, hypersensitivity, handbiting and autistic features in some of them.3. In 4 of the 27 large mar(X) pedigrees strong evidence was present of a possible transmission of the mar(X) through normal males.4. The high incidence of mental subnormality in the female offspring of heterozygote carriers, and the relationship between mental status, phenotype, age and expression of the mar(X) in different culture conditions is disc

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb01099.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

An increasing number of diseases are being demonstrated to be due to determinants at more than one genetic locus. It thus becomes of interest to determine the genetic contribution of a specific single locus. A method of estimating a “coefficient of genetic contribution” is described herein, based on a comparison of monozygotic twin concordance data for a specific disease, the empirical sibling recurrence risks, and the sharing of identical by descent genes at the specific locus of interest by pairs of siblings who are both affected. The value of the method is that it requires relatively few assumptions, and does not require knowledge of the mode of inheritance of disease susceptibility at the gene locus of interest. If there are major environmental determinants, this method will give a lower bound for the single locus of interest. To illustrate the method, it is applied to two specific diseases, insulin dependent diabetes mellitus (IDDM) and gluten‐sensitive enteropathy (GSE), and a specific locus, the HLA gene complex. The best estimates would appear to be that the HLA “genes” provide a coefficient of 60% for IDDM susceptibility, but only 30% for GSE. A possible reason for these differences is the markedly increased disease susceptibility of the DR3/DR4 heterozygote

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb01100.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

A study in healthy adult male twin pairs (17 MZ, 15 DZ) was devised to examine the genetic influence on epinephrine‐induced platelet aggregation. Intraclass correlations of 0.65 for MZ, 0.43 for DZ, and 0.61 for repetitive experiments in the same subjects point to the influence of genetic factors. The antagonizing effect of phentolamine on platelet aggregation did not prove to be under genetic control. There was no significant correlation between epinephrine concentrations which induce half‐maximal aggregation and number of a‐adrenergic receptors as measured by3H‐yohimbine binding. In one MZ twin pair concordantly, and also in two unrelated persons, epinephrine was unable to induce complete platelet aggregation. This phenomenon is not related to the number of a‐adrenergic binding sites on

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb01101.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

Cytogenetic and morphological findings of a 20‐gestational‐week‐old female fetus with karyotype 46, XX, i(18q) are reported. The fetus displayed clinical features resembling Edward's syndrome. No characteristic symptoms of monosomy 18p could be obs

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb01102.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

To determine the familial incidence of azoospermia and extreme oligozoospermiak (AEO; sperm counts<3 106/ml) 147 men with primary AEO were asked, by means of mailed questionnaires, for the occurrence of infertility among their brothers. 119 questionnaires were completed (81 %). Out of a total of 163 informative brothers 7 were reported infertile, of whom 3 had a documented AEO. This incidence is probably about double the general population frequency. A familial case of congenital aplasia of the vasa deferentia was found; this has previously been reported to recur in a sibship and may represent a simple inherited disorder.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb01103.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

It has been suggested that rates of fetal mortality in sibships of probands with a malformation inherited as a multifactorial threshold trait may reflect their liability to the malformation. If so, spontaneous abortion rates should be more frequent in sibships thought to have greater liability. For anencephaly and spina bifida (ASB), then, spontaneous abortion should be higher in the sibships of male probands and in families with more than one affected case (multiplex families).This hypothesis was tested using data on cases from The Montreal Children's Hospital and from the literature. Approximately 5000 pregnancies were analyzed. Rates of abortion did not vary with the sex or diagnosis of the proband. The spontaneous abortion rate was slightly higher in multiplex than in simplex families, but the difference was not statistically significant and most likely reflects the differing reproductive patterns in the two types of families. Thus, if male probands and multiplex sibships do have, on average, more liability for ASB, this liability cannot be detected in spontaneous abortion rates in the sibships available for this analysis.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb01104.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

The cytogenetic analysis of an infant with multiple congenital anomalies revealed a small deletion of the long arm of one No. 11 chromosome: 46XX del 11 (q23‐q25). The main clinical manifestations included: trigonocephaly, flat broad nasal bridge, micrognathia, carp mouth, hypertelorism, low set ears, severe congenital heart disease, anomalies of limbs and external genitalia. In comparison to the previously reported cases of 1 lq‐, the patient presented here had congenital anomalies not described before, including severe affected urogenital system, hypoplasia of the adrenal, accessory spleens and mild hydroceph

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb01105.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

Partial monosomy of 6q resulting from an interstitial deletion of bands q16 → q22 was found in a 12‐year‐old boy manifesting mental retardation, seizure disorder, and dysmorphic features. The correlation of phenotypic expression and specific long arm deletions of chromosome No. 6 is disc

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb01106.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

The activity of phytanic acid oxidase is low in infantile and adult Refsum's disease, and in the cerebro‐hepato‐renal (Zellweger's) syndrome. The plasma of patients with the infantile but not the adult form of Refsum's disease contains increased amounts of pipecolic acid and of at least two abnormal bile acids, one of which has been identified as 3α, 7α, 12α trihydroxy‐5β‐cholestan‐26‐oic acid. These changes are similar to those reported in the Zellweger syndrome and indicate that there may be similarities in the metabolic defects in Zellweger's syndrome and the infantile form of R

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb01107.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

A four generation family with postaxial Polydactyly of hands and feet and dental anomalies is reported. Lower and upper incisors were abnormal in shape and number. Additional findings were prominent ear anthelices, hypoplastic and dysplastic nails and mild shortness of stature. Inheritance was dominant with variable expression. It is proposed that the family presents the syndrome of acrofacial dysostosis described by Weyers in 1952. To differentiate it from other acrofacial dysostoses, we suggest naming the condition acrodental dysostosis.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb01108.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY