ISSN:0148-7299    

DOI:10.1002/ajmg.1320150402

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

年代:1983

数据来源: WILEY

摘要:

AbstractWe report on the Ullrich‐Turner syndrome in monozygotic twin sisters. The first twin had the syndrome with a 45,X chromosome constitution. The second twin had only minor manifestations of the syndrome with 46,XX/45,X mosaicism.The literature on the Ullrich‐Turner syndrome in twins is revie

ISSN:0148-7299    

DOI:10.1002/ajmg.1320150403

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

年代:1983

数据来源: WILEY

摘要:

AbstractOver 920,000 Roman Catholic marriages have taken place since the Archdiocese of Milwaukee was established in 1843. Most of these records are extant, and all have been examined to ascertain consanguineous marriages. The changing average population coefficient of consanguinity has been calculated, by year and by decade, showing a clear downward trend since the turn of the century. The data are compared with reports of consanguineous marriage incidence from around the world, and in particular with all available previous reports from the United States.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320150404

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

年代:1983

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320150405

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

年代:1983

数据来源: WILEY

摘要:

AbstractIn this paper we report on changes of the Ag‐stained NOR (Ag‐NOR) and Ag‐stained acrocentric association (Ag‐AA) frequencies in lymphocytes of women with polycystic ovaries, galactorrhea, or taking oral contraceptives. The results showed that Ag‐AA frequencies were increased significantly in all three study groups while the Ag‐NOR frequencies apparently did not increase.We assume that a difference in average Ag‐NOR frequency between the two groups may be a measure of the change in the number of active rRNA genes, and that differences of Ag‐AA frequency among populations reflect the change in transcriptional rate of the ac

ISSN:0148-7299    

DOI:10.1002/ajmg.1320150406

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

年代:1983

数据来源: WILEY

摘要:

AbstractA specific congenital contracture (arthrogryposis) syndrome has been recognized in 135 out of 350 patients with various kinds of congenital contractures. This sporadic syndrome, designated amyoplasia is characterized by absence of limb muscles that are replaced by fibrous and fatty tissue. At birth there is characteristic positioning of the limbs with internal rotation at shoulders, extension at elbows, and flexion of the hands at the wrists. Severe equinovarus deformities of the feet are usually present. Contractures at knees and hips occur in a variety of positions. Typically, the face is round with a frontal midline capillary hemangioma and slightly small jaw. Intelligence is normal.Approximately 63% of our patients had involvement of four limbs (almost always symmetrically), 24% mainly of lower limbs, and 13% mainly upper limbs. Typically, no other malformations are present. However, minor anomalies are seen often, and include hypoplastic digits and hypoplasia of scrotum or labia, the umbilical cord may be wrapped about a limb at birth. In utero fetal activity is decreased and breech delivery is increased in amyoplasia. All cases were sporadic; identical twins are discordantly affected.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320150407

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

年代:1983

数据来源: WILEY

摘要:

AbstractWe report on 11 cases of amyoplasia in one of identical twins. In total, 135 patients with amyoplasia were ascertained from a study of 350 patients with multiple congenital joint contractures (arthrogryposis). These 11 cases of identical twins with amyoplasia represent 8% of our patients with amyoplasia.At least 18 sets of twins with congenital contractures have been reported previously. However, only four of these appear to involve identical twins discordant for amyoplasia. Thus, 15 cases in which only one of identical twins are affected with amyoplasia have been identified.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320150408

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

年代:1983

数据来源: WILEY

摘要:

AbstractData on the occurrence of neural tube defects in first‐, second‐, and third‐degree relatives of probands were collected in a United States study. The proportions of affected individuals were 3.2%, 0.5%, and 0.17% respectively. These findings are compared to those from other recent North American studies, and differences are discussed. It is pointed out that accurate recurrence risk figures may not be available, and that caution should be used when counseling families with relatives who are affected wit

ISSN:0148-7299    

DOI:10.1002/ajmg.1320150409

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

年代:1983

数据来源: WILEY

摘要:

AbstractHuntington's disease (HD) has been reported in two isolated South Pacific islands, New Britain in Papua New Guinea, and Malaita in the Solomon Islands. The earliest presumptive choreics in these foci were born in the latter part of the 19th century, prior to the colonial period. It is known that these islands were visited by certain New England whalers in the precolonial era, and inspection of the crew lists of these whalers shows many men with surnames common to families in New England known to have produced HD individuals. In some instances, the name, age, and origin of whalemen correspond with those of known choreic individuals. It is suggested that New England whalemen carrying the trait for HD introduced the disease to these islands.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320150410

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

年代:1983

数据来源: WILEY

摘要:

AbstractTwo infants, each with a different form of sporadic lethal chondrodysplasia, had multinucleated giant chondrocytes in resting cartilage. Both patients also had severe laryngeal stenosis and normal chromosomes. The radiographic abnormalities in one patient conformed to the recently delineated entity, atelosteogenesis (spondylohumerofemoral hypoplasia or giant cell chondrodysplasia); the other patient had an unclassified type of spondyloepiphyseal dysplasia. The findings in these two patients and the previously reported observations in spondylohumerofemoral dysplasia confirm that chondrocytic giant cells are a causally nonspecific phenomenon.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320150411

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

年代:1983

数据来源: WILEY