ISSN:0148-7299    

DOI:10.1002/ajmg.1320140102

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY

摘要:

AbstractWe report on a study of attitudes toward artificial insemination by donor (AID) of persons at risk for Huntington disease (HD). The subjects of the study were 91 at risk persons and 68 matched controls. Both groups were divided by sex and age (45 yr ⩽ vs ≥ 46 yr). Demographic data included age, occupation, marital status, religion, education, ethnic background, and family size. We recorded (1) attitudes toward reproduction, (2) nature of contact with affected family member(s), (3) effects of HD on family planning, (4) attitudes toward AID, and (5) concern about donor selection criteria. Results suggest that (1) men and women differ in several ways with regard to their views about AID, and (2) that more vigorous educational programs might increase utilization of AID for the prevention of not only HD, but other human genetic diseases as w

ISSN:0148-7299    

DOI:10.1002/ajmg.1320140103

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY

摘要:

AbstractTwo fetuses affected by cyclopia, holoprosencephaly, and malformations of the nasopharynx were diagnosed prenatally in association with acute polyhydramnios. The facial malformations, confirmed by fetography‐amniography and proven at birth, were suspected on the basis of the ultrasonographic examinatio

ISSN:0148-7299    

DOI:10.1002/ajmg.1320140104

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY

摘要:

AbstractPachyonychia Congenita (PC) is an autosomal dominant syndrome of thick nails and other epithelial defects. A hospitalization for severe respiratory distress in a 3‐year‐old boy with PC and an affected father led to the discovery of 17 affected persons in a kindred spanning four generations. Nine relatives had varying degrees of upper respiratory tract obstruction, and eleven had dental aberrations.We review PC and discuss other unusual findings in this kindred, ie, arthritis in four affected relatives and a discrepancy between expected and observed ratios of affected to unaffected offspring of mothers with

ISSN:0148-7299    

DOI:10.1002/ajmg.1320140105

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY

摘要:

AbstractThe cytogenetic evaluation of a female infant with congenital anomalies led to the identification of the second reported case of a ring‐11 chromosome. Unlike the previously described case, in which the patient had only minimal clinical findings and no demonstrable loss of material from the ring, our patient had numerous anomalies that were asssociated with a substantial deficiency of 11q material. The different phenotypes in these two cases represent variation in the amount and location of the chromosomal material lost during the genesis of the ring.The manifestations of this patient and the deletion of region q24→qter from the ring‐11 identify a specific chromosome deletion syndrome referred to as del (11q) syn

ISSN:0148-7299    

DOI:10.1002/ajmg.1320140106

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY

摘要:

AbstractWe describe a postmature anencephalic infant with atrophy of the abdominal musculature (prune belly syndrome). Other associations of these conditions are noted.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320140107

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY

摘要:

AbstractDeletion of a chromosome region containing a polymorphic marker may result in apparent parental exclusion at that locus. We present a general method for calculating the probability that deletion at a specific locus would have such an effect. For many autosomal loci this probability is substantial, justifying attempts at deletion mapping in most cases. This method may be especially valuable in assigning DNA restriction fragment polymorphisms to chromosome regions.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320140108

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY

摘要:

AbstractTen Huntington disease (HD) families are analyzed using maximum likelihood methods to study age‐of‐onset (AO) heterogeneity. Both age of onset and age at examination are used in calculating an individual's likelihood of being affected; familial correlations and family structure are not included in the model. The model allows for differences in current age distributions by considering the distribution of age of onset conditional on age at examination.Families are grouped according to family type (ie, juvenile‐onset families and adult‐onset families) and then analyzed within each family type as well as between the two types, using both a chi‐square test for heterogeneity and F‐ratios. The results of the chi‐square analyses indicate heterogeneity in AO among the individual families as well as between the two family types. However, the results of the F‐ratios show no significant difference between the two family types, indicating that the difference in the chi‐square analysis between the two family types is mostly owing to variation among the families. Thus, the results demonstrate that the existing variation in age of onset between these two family types is dwarfed by the magnitude of the variation among the families within each type. This implies that families of sufficient size should be evaluated individually for age‐of‐onset data for the purpose of either genetic counseli

ISSN:0148-7299    

DOI:10.1002/ajmg.1320140109

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY

摘要:

AbstractTotal serum immunoglobulin E (IgE) concentration was measured on 316 members of five pedigrees selected through breast cancer probands. Sex‐ and age‐adjusted natural logarithm‐transformed IgE level was not found to differ between individuals with breast cancer or with cancer of any site and other relatives. Likelihoods of the polygenic and of one‐locus, two‐allele major gene and mixed models were computed. The analysis provided evidence for the presence of a polygenic component in the determination of IgE; it did not show evidence of a major ge

ISSN:0148-7299    

DOI:10.1002/ajmg.1320140110

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY

摘要:

AbstractWe present a child with multiple structural defects due to duplication of the short arm and a small portion of the long arm of chromosome 17. Three children with similar cytogenetic abnormalities have been reported previously. The karyotype contained an isodicentric chromosome derived from chromosome 17. A clue to the mechanism that produced the isochromosome was retained in the genome in the form of a part of the chromosome 17 long arm which was attached to the short arm of a chromosome 10.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320140111

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY