摘要:

A method of estimating the likelihood ratio and the risk of an individual being affected with Martin Bell syndrome (MBS) from anthropometric measurements is described. The procedure is based on the discriminant functions (one for each sex), generated in our previous study in order to separate the individuals with MBS from the normal individuals. The procedure is illustrated by the examples of estimating the likelihood and the likelihood ratio in four individuals of either sex, belonging to MBS families, where the discriminant score value obtained from each individual is compared with the empirical (normalized) distribution of discriminant scores from the known MBS and normal subjects of a corresponding sex. The ways in which the risk of an individual being MBS is estimated in the general population or in members of the MBS families are indicated. The limitations of the discriminant diagnosis based on body measurements, as well as its particular applications in studies of the Martin‐Bell syndrome, are discusse

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb03180.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

We have analyzed the origin, in a patient with 49,XXXXY, of the four X‐chromosomes by means of recombinant DNA techniques. We found a maternal origin of the four X‐chromosomes due to non‐disjunctions in the first and second meiotic divi

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb03181.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

Onset of puberty is usually considered to coincide with the last major step in brain development: the elimination of some 40% of neuronal synapses. Mean pubertal age has declined by some 4 years during the last 100 years. There is a relation between age at puberty and body build, and between body build and mental illness. The difference in body build between schizophrenia (S) and manic‐depressive psychosis (MDP) is similar to that between late and early maturers. It is suggested that S affects late‐maturing individuals and MDP very early maturers. The observed marked rise in MDP and decline in the most malignant forms of S (non‐paranoid) are in agreement with MDP and S as neurodevelopmental disorders occurring at the extremes of maturation. Maturational irregularities are most likely to occur at the extremes, and it is suggested that abbreviation of the regressive process may have led to persistent redundancy of neuronal synapses in MDP and that prolongation of the process past the optimal has yielded an inadequate synaptic density in S. The lack of cerebral abnormality in the majority of MDP and the presence of only subtle structural deficits in S, are in agreement with this. The two disorders are probably as old as mankind, and early puberty is the necessary factor for the development of MDP and late puberty is the necessary factor for that of S. There is an inverse relation between spatial ability and rate of maturation, whereas verbal ability is unaffected by maturational rate. From a previous predominance in both sexes, spatial ability (Performance IQ scores) has been reduced to below verbal ability (Verbal IQ scores) in the female sex and in early maturing

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb03182.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

Analysis of data from 56664 marriages in Turkey studied from 1970 to 1988 showed an overall rate of consanguineous marriages, of 21.25%, and increases in the rates of abortions, stillbirths, prenatal losses and neonatal deaths.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb03183.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

An Arab girl with macrosomia, severe microphthalmia and early infant death is reported. Four other sibs were similarly affected; three of them had median cleft palate. All five sibs showed respiratory infections in early life and died either unexpectedly or because of a documented overwhelming infection. Parental consanguinity and affected sibs of both sexes strongly suggest autosomal recessive inheritance in this apparently new syndrome.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb03184.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

The contribution of genes within the major histocompatability complex to rheumatoid arthritis has been calculated (Rotter&Landaw 1984). Separate data from hospital‐ and population‐based studies of monozygotic twin concordance rates and sibling recurrence risks have been used, along with material from published haplotype‐sharing studies. Using either source of information gives the same result, a contribution o

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb03185.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

It has been demonstrated that the genetic polymorphism of apolipoprotein (apo) E is associated with atherosclerosis. Thus, in this study, we have examined the apo E allele frequencies in 109 patients with ischemic heart disease (IHD) and 576 Japanese people as controls, and we have compared these frequencies between patients with IHD and controls. The frequencies of the ε2 and ε4 alleles were significantly higher in patients with IHD than in the controls (ε2: 8.2% vs 3.7%, ε4: 17.0% vs 11.7%), whereas the frequency of the ε3 allele was significantly lower in patients with IHD than in the controls (74.8% vs 84.6%). The ε2‐carrying patients with IHD were characterized by type III (43.8%) and IV (25.0%) hyperlipoproteinemia (HLP), whereas the ε4‐carrying patients with IHD were characterized by hypercholesterolemia (type IIb HLP: 42.8%, type IIa HLP: 28.6%). It is concluded that both ε2 and ε4 alleles are more associated with IHD than t

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb03186.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

An 8‐year‐old female child with mental retardation (MR), multiple congenital anomalies (MCA) and irregular pigmentation was shown to have karyotypic mosaicism involving chromosome 14 abnormalities. Four cell lines were found in both peripheral blood lymphocytes and skin fibroblasts and were represented by: a normal karyotype, an isopseudodicentric 14q [iso psu dic(14)], a ring 14 [r(14)], and a monosomy 14 [mono(14)]. Our results are compared with reported cases involving multiple abnormalities of specific chromosomes. Karyotypic mosaicism of comparable chromosome 14 abnormalities is rare, with only one known previous case. Detailed analysis of karyotypic mosaicism of rare chromosomal abnormalities is essential to determine meaningful correlations with specific patterns of malformat

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb03187.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

Two rare cases of 6p partial deletion (6p23 →pter) are described. Both patients are at or past the adolescent stage, with severe mental retardation and severe to moderate developmental retardation. Physical dysmorphic features that stand out are: short forehead, borderline microcephaly, low‐set malformed ears, hyperplastic nares, dental anomalies and short terminal phalanges. The diversity of the phenotypic features has considerable variations in patients with ring of 6, apparently reflecting the relative loss of p and q arms. A case of a larger terminal deletion and a report of an interstitial deletion is also revie

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb03188.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY

摘要:

Although Hirschsprung's disease is a relatively common congenital malformation, with an estimated incidence of about 1:5000, Primary Central Hypoventilation Syndrome (Ondine's curse) is exceedingly rare, with about 50 reported cases. We describe a patient with total colonic aganglionosis occurring together with failure of automatic control of respiration, specific facial dysmorphology and characteristic CT scan changes to substantiate further the syndromic nature of this association.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1989.tb03189.x

出版商:Blackwell Publishing Ltd    

年代:1989

数据来源: WILEY