ISSN:0148-7299    

DOI:10.1002/ajmg.1320050402

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

年代:1980

数据来源: WILEY

摘要:

AbstractWe report a 5½‐year‐old girl with a tiny supernumerary chromosome fragment found in mosaic. The ring nature of the tiny fragment was demonstrated by the detection of the characteristic products of a ring chromosome. The clinical consequence of a ring chromosome and the impact of finding a supernumerary chromosome fragment, especially in the practice of prenatal chromosome diagnosis, are discu

ISSN:0148-7299    

DOI:10.1002/ajmg.1320050403

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

年代:1980

数据来源: WILEY

摘要:

AbstractWe present a 31‐year‐old woman with a 45,X chromosome constitution who had had two miscarriages. This report brings to 11 the number of presumably non‐mosaic Ullrich‐Turner syndrome patients who have achieved pregnancy. A review of the literature indicates an increased incidence of chromosome abnormalities and a high rate of fetal death in offspring of such patients. However, in light of the fertility in these patients, genetic counseling should be reevaluated and perhaps amniocentesis recommended in successful preg

ISSN:0148-7299    

DOI:10.1002/ajmg.1320050404

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

年代:1980

数据来源: WILEY

摘要:

AbstractWe have analyzed the chromosome abnormalities found in 2,500 amniocenteses for prenatal diagnosis; 1,887 (75%) were performed because the maternal age was 34 years or more. Chromosome abnormalities were detected in 1.80% of those referred for advanced maternal age, 1.2% between ages 34 and 39 years and 4.6% 40 years and over. Of these, four occurred in women who would have been 34 years at delivery (2.9%). Trisomy 21 accounted for 50% of the chromosome abnormalities; sex chromosome abnormalities, for 25%; the remaining 25% was divided equally between trisomy 18 and partial trisomies and mosaics. Unexpected translocations were found in 0.4%, of which two‐thirds were balanced and identified in one parent. The accuracy was 99.6

ISSN:0148-7299    

DOI:10.1002/ajmg.1320050405

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

年代:1980

数据来源: WILEY

摘要:

AbstractSyndactyly without other combined limb anomalies, Poland complex, or amniotic bands, was diagnosed in 174 of 599, 109 consecutive newborn infants (3/10,000). Syndactyly was the only diagnosed anomaly in 133 cases, and it was associated with other anomalies in 41. The most common type of syndactyly was isolated syndactyly of the second and third toes (70 cases), which affected more males than females, and had a higher than expected frequency of white non‐Latin‐European ancestry. The second most frequent type was isolated syndactyly of the middle and ring fingers (18 cases), and the third was isolated syndactyly of the fourth and fifth toes (13 cases). Considering both isolated and syndromal cases, 66% (114/172) could be assigned to one or another of the fourth genetic categories of syndactyly described by Temtamy and McKusick [1978]. This, plus the high frequency of affected first degree relatives observed (25/434:6%), suggests that the genetic forms of syndactyly may be more common than might be suspected from the small number of pedigrees in the literat

ISSN:0148-7299    

DOI:10.1002/ajmg.1320050406

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

年代:1980

数据来源: WILEY

摘要:

AbstractWe report a previously undescribed association of severe short‐limbed dwarfism and macular colobomas with histological changes of cartilage resembling to some extent those of diastrophic dysplasia.Chance occurrence of two rare disorders due to different causes is considered unlikely and the patient is presumed to have a syndrome of, as yet, unknown caus

ISSN:0148-7299    

DOI:10.1002/ajmg.1320050407

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

年代:1980

数据来源: WILEY

摘要:

AbstractAt least three cases of the Meckel syndrome have been identified in the Hutterites. Two of these were sibs and were studied during life; the other, a close relative, was diagnosed retrospectively by a review of hospital records. All parents were consanguineous. The phenotype ranged in severity from the association of occipital meningocele, cystic kidneys, postaxial polydactyly, and microphthalmia to a milder expression consisting of cystic kidneys, ocular defects apparent only on funduscopic examination, and a brain abnormality demonstrated by computer tomography. Survival ranged from 5 to 13 months. In one patient, the renal lesion was manifested as a tubular rather than a glomerular defect, and was probably not the primary cause of death.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320050408

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

年代:1980

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320050409

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

年代:1980

数据来源: WILEY

摘要:

AbstractAs more people learn about prenatal diagnosis, medical personnel are increasingly being asked to perform these procedures in both low‐risk pregnancies and for purposes of sex selection. Analysis of present legal rules illustrates that it is highly unlikely genetic counselors will be subjected to legal liability for refusing to provide prenatal diagnosis in these situations. This freedom from liability will probably continue into the foreseeable future, despite recent developments in the areas of informed consent and allocation of scarce medical resources that tend to limit the traditionally broad deference given to medical personne

ISSN:0148-7299    

DOI:10.1002/ajmg.1320050410

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

年代:1980

数据来源: WILEY

摘要:

AbstractDetailed anatomical dissections of five Down syndrome (DS) bodies revealed a unique and consistent “internal phenotype” composed of: 1) variations in muscles, 2) peripheral artery variations, and 3) the presence of dilatations and nerve rootlets associated with the spinal accessory and first cervical nerves. Most of these variations may occur occasionally in the normal population, but their more frequent occurrence in the five DS cases provides further support for Shapiro's (1975) hypothesis that one effect of the extra autosome is to increase the instability of normal developmental processes.Three of the variations: 1) the presence of an extra facial muscle, 2) multiple vertebral arteries, and 3) the presence of dilatations and nerve rootlets associated with the spinal accessory and 1st cervical nerves, may be the result of a failure of regression of otherwise transient embryonic structures.A variation of the midfacial muscles of expression, explained as an arrest in development, has not been described previously and, to date, remains a manifestation unique to the trisomy 21 phenotype.Aside from their use in developmental speculation, the sum of these variations may be useful for corroborating diagnoses of suspected post‐mortem cases of the DS without cytogenetic confirm

ISSN:0148-7299    

DOI:10.1002/ajmg.1320050411

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

年代:1980

数据来源: WILEY