摘要:

We investigated 24 patients with Prader‐Willi syndrome by the high‐resolution banding technique. Their history and clinical findings were also examined in some detail.Twelve had interstitial deletion of 15q;.del(15) (ql 1.2q13) in 11 cases and del(15) (ql 1.2q12) in one case. Six revealed normal karyotypes at about 500–850 bands per haploid‐set level. In an additional six cases, no deletion was detected. However, we took the results as tentative, as the observed karyotypes were at the 400‐bands level. During the course of this study, it was realized that a small deletion in the proximal 15q could be easily overlooked when a mitotic spread around 400‐bands or less per haploid‐set level was used.There was no distinct difference in the clinical features of patients with interstitial deletion and those with a normal karyotype. Two cases in the latter group lacked some of the typical features of the former group, e.g. poor fetal vigor, neonatal feeding difficulty, hypotonia, and delayed moto

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00603.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

Fragile‐X mental retardation (FRAX‐MR) is one of the more common X‐linked disorders affecting 1 in 1,500 newborn males. This disease is characterized by the expression of fragile site in the region q27.3 of the X‐chromosome of affected boys when their lymphocytes are cultured in folate deficient medium. In most patients there is macroorchidismo postpubertallyo. The clinical diagnosis of carrier females based on the expression of fragile site in Xq27.3 is usually difficult and sometimes impossible. About half of the carrier females escape diagnosis by this method. Furthermore, prenatal diagnosis is not always feasible. Using Restriction Fragment Length Polymorphism (RFLP) and cloned DNA segments from the region Xq27‐Xqter as probes, we have investigated Swedish families with FRAX‐MR in three generations. Interesting observations, previously unreported to our knowledge, have been made in some patients and carrier mothers, using one of the probes which is localized to the distal end of Xq. The significance of these findings and the linkage of the disease locus to the different probes used in this study i

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00604.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

In this paper we describe two new patients with distal 11q monosomy and precisely localize breakpoints using high resolution banding techniques. The findings in these two patients further contribute to the precise localization of the crucial band for 11q monosomy syndrome as being at 11 q24.1. A very distal 11 q24.2 deletion in the second patient resulted in a completely different phenotype.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00605.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

The unique situation that the Norwegian 1891 census included information on consanguineous relation between spouses and that first admissions to psychiatric hospitals by diagnosis were available for the years 1921‐40, formed the basis for the present study. There are similarities between the pattern of inbreeding and admission rates in our rural communities, but we were unable to demonstrate any significant correlation. This is interpreted as due to selective avoidance in the choice of a marriage partner, particularly between near relatives. Good neighbourhood knowledge was an important factor in our sparsely populated communities with a marriage pattern distinguished by extreme geographical proximity of residence of spouses.The considerably lower proportion of first cousin matings than expected among parents of psychiatric in‐patients 1926‐55, illustrates the lower psychiatric morbidity in offspring of consanguineous parentage.Admissions 1921—40 comprised only functional psychoses with a predominance of schizophrenia (>80%), which today is diagnosed in less than 10%. A decline in incidence rate is not likely, whereas changing diagnostic practice is probably a main factor. The near disappearance of catatonia and hebefrenia could be related to the introduction of psychotropic drugs and the accompanying improvement in hospital treatment. The epidemiology of schizophrenia is unchanged with a significant excess in lower social classes. This could in part be due to schizophrenic phenocopies related to the unchanged social differential in infant mortality and morbidity (including a particular season of birth effect), in part to the prevalence of adverse environment postnatally. The considerably greater male marital differential has probably a social cause, whereas male earlier onset of disease and more severe course of the disease are discussed in relation to the new concept of progressive sexual brain differen

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00606.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

265 hypogonadic Sardinian males, ascertained through military records of 600,000 conscripts approximately over the last thirty‐seven years, were screened for their sex chromatin phenotype by buccal mucosa smears and for their karyotypes from peripheral blood lymphocyte cultures. 158 (59.4%) showed a XXY karyotype without mosaicismo, 5 XX and 1 XXYY karyotypes. Seven sex chromatin negative males had Kallmann's syndrome. This report summarizes the genetic and clinical data recorded in this population sample as opposed to those reported from fertility clinic

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00607.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

A male infant is described in whom congenital anomalies were recognized prenatally by ultrasound examination. The infant was delivered following spontaneous labor and died approximately 15 min after birth. An autopsy revealed major anomalies in the central nervous system (holoprosencephaly with premaxillary agenesis), the gastrointestinal system (esophageal atresia) and the heart (tetralogy of Fallot). Chromosomal studies revealed recombinant chromosome 5[46, XY, rec(5), dup q, inv(5)(p15q32)], resulting in partial trisomy 5q and partial monosomy 5p. Cytogenetic investigation of the family revealed a pericentric inversion of chromosome 5 in the father and paternal grandmother,46, XY (and XX, respectively,) inv(5)(p15q32). The congenital anomalies in this infant are more extensive and severe than previously reported in cases of recombination aneusomy involving chromosome 5.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00608.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

A number of studies have reported on possible relationships between a hypervariable sequence near the 5′ end of the insulin gene and some common diseases. Control populations within these studies appear to disobey the Hardy‐Weinberg equilibrium. In this study we have ascertained the allele frequencies in 181 random individuals. The chi‐squared statistic comparing this population with a theoretical Hardy‐Weinberg population was 0.61. This makes it unlikely that in the general population the Hardy‐Weinberg rule is disobeyed. Possible reasons for the discrepancy between our study and the studies of others are

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00609.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

Prenatal diagnosis of glycogenosis type II was performed by direct assay of acid α‐glucosidase (EC 3.2.1.20) in chorionic villous biopsy obtained by transcervical cannula aspiration from a pregnancy at risk in the 10th week of gestation. The exact value of the enzyme activity estimated by the use of antibody preparations for purified human liver acid α‐glucosidase was in the heterozygous range, and so the homozygous enzyme deficiency could be excluded. The subsequent analysis of cells cultured from amniocentesis sampling in the 18th week of gestation resulted in a similar outcome. The study with antibodies showed that in 23 control chorionic villi obtained during gestational ages between 7–13 weeks, 1–15% of the total a‐glucosidase activity at pH 4.0 were due to renal or neutral enzyme. This indicates that it may be important to employ antibodies for prenatal diagnosis using chorionic villous sampling.A healthy and unaffected boy was born. The biochemical values obtained from an umbilical blood specimen were in accordance with the results of the prenata

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00610.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

Three pregnancies at risk for late infantile metachromatic leucodystrophy have been monitored using chorionic villus biopsies. In the first of these a false negative diagnosis was made following assay of arylsulphatase A in villi. Subsequent studies have shown that this error was probably due to interference from another sulphatase in the villi, although the possibility that maternal contamination was also partly responsible could not be excluded. For reliable prenatal diagnosis of metachromatic leucodystrophy using chorionic villi it is advisable that studies with the nitrocatechol substrate are carried out on fractionated homogenates, or that the natural substrate is used. Problems may also occur when chorionic villi are used for assay of arylsulphatase B for first trimester diagnosis of Maroteaux‐Lamy diseas

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00611.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

A kindred on the mid‐Atlantic island of St. Helena has severe “knock knees” and variable lesser malalignment at the elbows and wrists. The disorder is the consequence of hypoplasia of the corresponding bony condyles, with subsequent progressive degenerative osteoarthrophy. Inheritance is autosomal dominant and the condition seems to be a private syndrome which has arisen on the island by recent mutation. In view of the geographical localisation of the disorder and the anatomical distribution of the abnormalitites, we propose the title “St. Helena Familial Genu

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00612.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY