摘要:

One patient with the karyotype 46, X, del(X)(p 11.23) and three patients with 45, X/46, XX mosaicism were fertile or showed normal ovarian function. The patient with the Xp deletion has two daughters with the same chromosomal abnormality. A study of these patients and of others reported in the literature indicated that fertility of patients with X chromosomal abnormality has a markedly shorter duration than fertility of the normal female. Menopause commonly occurred during the second and third decade of age. We suggest that such fertility is related to the rate of germ cell attrition and hypothesize that germ cell attrition in the human female is influenced by genes of multiple effect which are carried on the X chromosome. The more of these genes which are present the slower the rate of germ cell attrition.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb01994.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

The frequency of genotypes at the polymorphic locus which codes for Apoprotein‐E, an important constituent of very low density serum lipoprotein, has been determined in a random sample of persons between the ages of 45 and 60 years, born in the Grampian Region of North East Scotland. Three alleles, EIIEIIIand EIVoccur with a frequency of respectively 0.08, 0.77 and 0.15. In a random sample of survivors of myocardial infarction, born in the same region, genotype EIVEIIIoccurs more and EIIIEIIless frequently than expected. Also the mean age at first infarction is lower in men for genotype EIVEIIIthan for other genotypes. Commonly occurring genotypes at this locus apparently influence the risk of coronary disease. A prospective study is needed to show how the genetic effects are expresse

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb01995.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

The frequencies of fetal deaths in sibships of oral cleft probands are analysed in relation to sporadic or familial clefts, and pure or syndromic clefts. In a study of 1823 pregnancies in 630 sibships of probands with CL(P), the frequency of fetal deaths was found to be increased, but not significantly, in the sporadic group as compared to the familial group of sibships from Indiana. However, such an increase was found to be significant in the Montreal data. The pooled data from both these centers also show a significant increase in the sporadic group. For CP, no such differences were found.Similar comparisons of fetal mortality in relation to pure and syndromic clefts indicated that the frequencies of fetal deaths were consistently elevated in sibships of probands with syndromic clefts with one exception, which is the Indiana CP group where the lowest frequency of fetal deaths was observed in the sibships. This group mostly consisted of sibships with solitary pregnancies. This may have been a result of early zygotic mortality in this group. Further data will be obtained to confirm this observation.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb01996.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

Birth intervals in sibships of oral cleft probands are analysed to detect prolonged delays between successive pregnancies. Such intervals are useful indicators of undetected fetal mortality. The present study indicates that the average interval for 462 cleft families in Indiana is 30.61 months. The average interval leading to the birth of a cleft child is 33.94 and is significantly greater than the average interval for the entire sample. Although the contraception status of the Indiana population is not known, the significantly greater delay preceding the birth of a cleft child is indicative of a cause other than contraception. This finding is in agreement with the report by Drillien et al. (1966) that abnormal conceptions occur more frequently adjacent to cleft offspring. It is interesting that some increase in the average interval is also noted in the present study immediately following the birth of a cleft child. Such delays occurring both preceding and following the birth of a cleft child (in contrast to smaller intervals for other pregnancies in the same sibships) may indicate excessive fetal wastage due to a combination of genetic and environmental factors.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb01997.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

Arteriohepatic dysplasia (AHD) is a disorder characterized by intrahepatic cholestasis and peripheral pulmonary artery stenosis. We have reviewed the phenotypic features in the 56 previously reported cases and 7 persons from our institutions with AHD to summarize the type of cardiac, hepatic, facial, ocular and skeletal manifestations observed in this disorder. Family studies evaluating first‐degree relatives of patients with AHD are compatible with an autosomal dominant mode of inheritance with reduced penetrance and variable expressivit

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb01998.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

The heredity of juvenile periodontitis was studied in a series of 30 families. None of the 60 parents showed any sign of this disease. Of the 52 siblings, nine in seven families were affected. The calculated genetic ratio concurred with the hypothesis of autosomal recessive inheritance based on the results of an earlier study of 31 families (Saxén 1980)

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb01999.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

We report ten cases with 45, X/46, XY karyotype. Cytogenetic and clinical findings have been compared. No constant relationship was found either between blood and gonadal karyotype, or between karyotype and gonadal morphology.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb02000.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

Dermatoglyphic findings were compared in 38 Prader‐Willi syndrome (PWS) patients and 270 normal controls. Twenty‐one of the PWS patients had an interstitial deletion of the proximal long arm of chromosome 15 and seventeen PWS cases had normal chromosomes. Findings in PWS are not diagnostic but do show some consistent deviations that can be used in the clinical evaluation of PWS patients. These include a displacement of the axial triradius away from the normal proximal position, an excess of whorls primarily on the thumbs, radial termination of the palmar A mainline, and lack of arches on the big toe. Deletion PWS patients were much more homogeneous than non‐deletion cases with respect to plantar patterns. The previously reported deficit of plantar pattern intensity was restricted only to deletion PWS and was characterized by a lack of plantar interdigital II‐IV patterns with almost exclusively hallucal dista

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb02001.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

Difficulties of differential diagnosis between Prader‐Willi Syndrome and Cohen Syndrome are demonstrated in a 12–year‐old girl with obesity and mental retardation.Cytogenetic studies showed an apparently supernumerary band on chromosome 15 in the proximal region q11‐13.Both parents have a normal karyotype.The aberrant chromosome was derived from an apparently normal paternal chr

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb02002.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

Severe limb anomalies with radial aplasia and hypodactylia are reported in a male newborn with 4p deletion syndrome. In apparent contradiction with previous reports, this finding indicates that the radial aplasia, as frequently observed in patients with ring chromosome4, seems to be more likely related to the 4p deletion, rather than to the 4q deletion.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1984.tb02003.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY