ISSN:0148-7299    

DOI:10.1002/ajmg.1320040102

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

年代:1979

数据来源: WILEY

摘要:

AbstractTwo cases of partial trisomy 2q are described, both resulting from a balanced translocation in one of the parents. In one case the chromosomes 2 and 11 were involved [paternal karyotype: 46,XY,t(2;11)(q33;q23)]; in the second case, chromosomes 2 and 8 [paternal karyotype: 46,XY,t(2;8)(q32;p23)]. When the two patients were compared to the few cases reported in the literature, it was concluded that the associated clinical syndrome is characterized by severe psychomotor retardation and relatively mild abnormalities involving skull and facies.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320040103

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

年代:1979

数据来源: WILEY

摘要:

AbstractRoberts syndrome and SC phocomelia syndrome are an autosomal recessive condition of prenatal and postnatal growth retardation, symmetrical limb reduction, and craniofacial abnormalities. A distinction has been made between the two syndromes on the basis of relative severity of these manifestations. Where chromosome studies have been carried out, most have been reported as normal. However, there have been two reports of consistent centromere abnormalities; one in a patient with SC phocomelia (pseudothalidomide syndrome), the other in a patient with Roberts syndrome. Four patients with similar phenotypic manifestations have recently been shown in our laboratory to have the same centromere puffing and splitting. These four patients had other clinical manifestations in common, including bilateral corneal opacities, microcephaly, absence of radii, limited extension at knees and elbows, apparent enlargement of the phallus, and survival beyond the neonatal period.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320040104

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

年代:1979

数据来源: WILEY

摘要:

AbstractWe have evaluated four individuals from two unrelated families with a similar multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to partial duplication of chromosome 1q and possible deletion 18p. In both families the mothers and several relatives were carriers of the balanced translocation rep t(1;18) (q42;p11).The features which the four have in common are relative macrocephaly, prominent forehead, micrognathia, and highly arched palate; three of the four individuals have short stature, scoliosis, kyphosis, hirsutism, camptodactyly, sacral dimple, repaired inguinal hernias, and eye abnormalities.Reproductive histories of five balanced translocation carriers in these families indicate that they have a high risk of spontaneous abortions and infants with multiple malformations.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320040105

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

年代:1979

数据来源: WILEY

摘要:

AbstractReanalysis of data on periodontal disease in 241 families [Chung et al, 1977b], based on an extended and more satisfactory path model [Rao et al, 1979], failed to detect significant heritability, and concluded in favor of cultural inheritance only, without maternal effects or intergenerational differences. The most parsimonious hypothesis yields a relative variance component of 0.338 ± 0.024 due to indexed environment for both children and adults, the remainder (1.0 − 0.338 = 0.662) being due to residual nongenetic facto

ISSN:0148-7299    

DOI:10.1002/ajmg.1320040106

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

年代:1979

数据来源: WILEY

摘要:

AbstractA patient with triplication of all of chromosome arm 20p is presented to illustrate the relatively modest degree of developmental delay that can result from autosomal triplication and the role of nondisjunction as a mechanism for deriving a partial triplication status.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320040107

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

年代:1979

数据来源: WILEY

摘要:

AbstractTo investigate how parents who have had genetic counseling perceive the problems created by being at risk, transcripts of open‐ended, semistructured follow‐up interviews with 53 counselees were analyzed qualitatively. Rate information, though recalled accurately by parents considering further childbearing, was discounted as impersonal, and subjects overwhelmingly perceived the chance of recurrence in binary form – it either will or will not happen. By processing rates this way, they simplified probabilistic information and shifted their focus to the implications of being at risk and the potential impact of that which might or might not occur. The many uncertainties they faced, the “consequences” of being at risk that parents felt had to be resolved during the decision‐making process, fell into 3 major categories: uncertainty that arose because of the ambiguous impact and meaning of having an affected child; uncertainty about how to make a choice and how others would view it, the burden of decision‐making; and uncertainty about their ability to fulfill their roles as parents. These issues were perceived as part of the problem to be resolved and were consolidated into “scenarios” in which the parents “tried out the worst.” This analysis of counselees' perceptions of the problems created by being at genetic risk suggests that parents may process the disparate facts of their situation in common ways that emphasize their uncertainty, and it indicates that how parents perceive factual information may be more important in orienting their deliberations than what these facts (diagnosis, prognosis

ISSN:0148-7299    

DOI:10.1002/ajmg.1320040108

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

年代:1979

数据来源: WILEY

摘要:

AbstractQualitative analysis of transcripts of follow‐up interviews with 53 parents who had had genetic counseling was undertaken to characterize the process by which childbearing decisions were made and to determine how counselees resolved the problems created by being at risk. Although specific issues to be resolved varied with a parent's perception of his or her situation, all those who considered having subsequent children attempted to limit the uncertainties they faced and to neutralize those consequences perceived as most problematic. To do so, counselees uniformly inferred from factual information and experiences available to them how they could manage the possible consequences of taking a chance. Factors influencing a parent's ability to make a clear decision included the presence of a previous normal child, the diffusion of decision‐making responsibility to others, and recognition that one had already managed the worst. When these “facts” could not be processed to provide a sense of coping, parents either decided against reproduction and took appropriate action or made a “non‐decision” about reproduction by choosing to leave conception to chance. These various tactics allowed parents to create a “least‐lose” option in terms of their child‐bearing choices. This analysis of how parents make reproductive decisions, along with previous findings, suggests that being at risk both creates common problems and elicits common responses from counselees. Moreover, it highlights the importance of recognizing parents' perceptions of their situation to understand how their deliberations are structured and how factual information influences t

ISSN:0148-7299    

DOI:10.1002/ajmg.1320040109

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

年代:1979

数据来源: WILEY

摘要:

AbstractWe report autosomal dominant atresia and/or stenosis of the external auditory canal with or without conductive deafness. In the family described here the anomaly had occurred in 12 individuals in five generations. Penetrance was very high, expressivity quite variable. The clinical, audiometric, radiographic, and operative findings in three patients (grandfather, father, and son) are presented. This condition has been reported only once previously.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320040110

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

年代:1979

数据来源: WILEY

摘要:

AbstractA new inbred mouse strain, SW/Fr, developed from a random‐bred SW stock has a 6% incidence of spontaneous cleft palate without cleft lip. SW/Fr mice close their palates comparatively late in development. After cortisone treatment, the mean of the distribution (mean time to reach palate stage 5) is shifted towards later gestational ages. There is no change in the variance of the distribution.These data lend further support to the hypothesis that cleft palate in mice may fit a model where a continuous distribution is separated into discontinuous parts by a developmental threshold, and that time of palate closure is an important component of liability to cleft palat

ISSN:0148-7299    

DOI:10.1002/ajmg.1320040111

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

年代:1979

数据来源: WILEY