摘要:

AbstractThirty‐five mothers of children with hemophilia were studied in order to ascertain the impact of hemophilia on family planning. Attitudes about reproductive risks and prenatal diagnosis were also examined. The most important factors influencing family planning in this group were parental fulfillment and availability of medical care and education for their affected child. Although 79% of mothers viewed their reproductive risk as moderate to very high, 57% indicated that their reproductive plans had not changed even with this knowledge. While 43% of the group would consider prenatal diagnosis, only 17% would terminate a pregnancy if the fetus was found to have hemophilia. Of those interested in prenatal diagnosis, the majority were interested in knowing if the fetus was affected but would not consider termination of the pregnancy. The majority of mothers in the group did not view having a child with hemophilia as an insurmountable burden on their lives. Therefore, the disease appeared to have little impact on family plannin

ISSN:0148-7299    

DOI:10.1002/ajmg.1320310202

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

年代:1988

数据来源: WILEY

摘要:

AbstractHere we present a second example of the syndrome first reported by Holzgreve et al. [1984] in this journal, i.e., Potter sequence with persistent buccopharyngeal membrane type II, Postaxial polydactyly, cleft palate, cardiac anomalies, intestinal nonfixation, and intrauterine growth retardation. This specific complex MCA syndrome is not associated with a detectable chromosome abnormality.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320310203

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

年代:1988

数据来源: WILEY

摘要:

AbstractResearch on the malformation cleft lip with or without cleft of the palate is complex and may involve studies of etiology, pathogenesis, natural history, and other disease associations. One of the more intriguing areas of study is developmental lateralization. The 3 extant reports of the relationship between laterality of cleft lip and handedness are in conflict. The purpose of the present study is an attempt to resolve the confusion and to explore possible hypotheses that could explain the data.A random sample of 149 probands with unilateral cleft lip ± palate was ascertained from 2 Los Angeles area hospitals. Laterality of clefting and handedness was determined for each, the former by inspection and the latter by the method of Oldfield [1971]. Information was also obtained on the nuclear family about the number of sibs, presence of clefting, and handedness of he probands' parents. The probability of non‐right‐handedness (NRH) was much greater for probands with left‐sided cleft lip than those with right‐sided cleft lips; this was independent of the proband's sex. The cleft lip laterality in probands was independent of parental handedness, suggesting that the significantly increased frequency of left‐sided clefting and NRH is embryologic in origin and may have a common etiology and/or pathogenesis. Several explanations are proposed and

ISSN:0148-7299    

DOI:10.1002/ajmg.1320310204

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

年代:1988

数据来源: WILEY

摘要:

AbstractComparisons of bias and standard errors of genetic parameter estimates arising from various estimation procedures are made by using contrived genetic data in which parental haplotypes are known in addition to the haplotypes of affected sibs. These comparisons show that knowledge of parental haplotypes can reduce standard errors of genetic parameter estimates by between 10% and 45% as compared to estimates when parental information is not available. The added information does not appear to change the standard errors of ascertainment–assumption–free estimates relative to those from classical methods. This implies that the decision to accept possible bias arising from a classical estimation method or to accept slightly increased standard errors under an ascertainment–assumption–free approach is comparable to that involved when parental haplotypes are

ISSN:0148-7299    

DOI:10.1002/ajmg.1320310205

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

年代:1988

数据来源: WILEY

摘要:

AbstractThe serum activity of creatine kinase (CK) and pyruvate kinase (PK) was measured in 98 pairs of same‐sex Brazilian twins. The purpose of this study was to estimate the genetic and environmental components of serum activity levels for both enzymes. Heritabilities were estimated separately by path analysis in each sex. The results showed that CK and PK activities are under genetic control in normal males and females. Environmental components were not statistically significant for CK or PK. The genetic components of both enzymes estimated in females has implications in the calculation of genetic risks for Duchenne muscular dystrophy carrier

ISSN:0148-7299    

DOI:10.1002/ajmg.1320310206

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

年代:1988

数据来源: WILEY

摘要:

AbstractWe describe a boy with bilateral lid agenesis and total keratinization of cornea and conjunctiva, macrostomia, psychomotor retardation, forehead hypertrichosis, ocular hypertelorism, thin lips, abnormal auricles and nose, skin alterations, and other findings. Differential diagnosis with ablepharon‐macrostomia syndrome is presented. Cause is unknow

ISSN:0148-7299    

DOI:10.1002/ajmg.1320310207

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

年代:1988

数据来源: WILEY

摘要:

AbstractThe Noonan syndrome (NS) is a multiple congenital anomalies (MCA) syndrome with well‐known manifestations. Excessive bleeding has been described occasionally. We report on 19 patients with NS and a bleeding diathesis. Several different defects are identified in the coagulation and platelet systems occurring singly or in combination. Clinical expression is variable. It is concluded that bleeding diatheses occur in NS at a much higher frequency than previously suspected. Consideration is given to possible relationship to underlying metabolic defects which could explain the diverse nature of the bleeding diatheses and also play a role in the pathogenesis of NS. The variety of bleeding diatheses may also reflect heterogeneity within NS.NS patients frequently undergo surgery with increased risk of bleeding. Appropriate evaluation and management is discussed. Evaluation of all NS patients and their families for bleeding disorders should provide important information about the frequency and type of bleeding diatheses which occur and perhaps help to clarify the etiology and pathogenesis of N

ISSN:0148-7299    

DOI:10.1002/ajmg.1320310208

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

年代:1988

数据来源: WILEY

摘要:

AbstractWe describe two families with insertional translocations. In the first, a large family ascertained because of repeated pregnancy loss, the insertional translocation, ins(1;3)(q32;p13pter), was found to be segregating through three generations. In the second family, ascertained through a proposita with congenital malformations, multiple spontaneous abortions also occurred. The father had an insertional translocation, inv 4(p14,q21.1)ins(7,4)(q32;q21.1 q23). These cases illustrate that recurrent fetal wastage may be caused by insertional translocations and in fact may be the only clinical manifestation of this unusual type of chromosome rearrangement.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320310209

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

年代:1988

数据来源: WILEY

摘要:

AbstractWe evaluated the neurodevelopmental status and cognitive ability of 30 school‐age children with Marfan syndrome. We found average intellectual (mean full scale IQ = 109.3) and gross motor development. Fifty percent had one or more neuropsychologic deficits: learning disability (LD) (13%), attention deficit disorder with or without hyperactivity (ADD ± H) (17%), neuromaturational immaturity (NMI) (10%), and a performance IQ score different from their verbal score by more than 20 points (30%). Patients with a large verbal‐performance discrepancy, with one exception, scored lower on tests of performance, and particularly low on two subtests, object assembly and coding, compared with the rest of the patients (P<0.01). The factor most highly correlated with verbal‐performance discrepancy was the severity of joint hypermobility (P= 0.02), which suggests that the depressed performance score was due, in part, to motor incoordination. Children with Marfan syndrome may be prone to neuropsychologic problems; the role of routine screening remains to be tested. Those with hand‐wrist hypermobility seem at particular risk for difficulties with tasks that involve writing and should receive careful evaluation in the classroom. Due to the high risk of aortic dilatation in these patients, if stimulant medications are considered for treatment of ADD ± H, the risk of adverse sympathomimetic effect should be weighed against the potentia

ISSN:0148-7299    

DOI:10.1002/ajmg.1320310210

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

年代:1988

数据来源: WILEY

摘要:

AbstractTwenty‐two selective terminations in multiple gestations were performed by a number of different methods. In 17 dichorionic pregnancies there was a successful delivery in surviving singletons or twins. In five monochorionic pregnancies undergoing selective termination there was a successful delivery in only one and a pregnancy loss in the other four. Six of the 18 delivered pregnancies were complicated by premature labor and delivery. Among the several methods used for selective termination, intracardiac potassium chloride injection appears to be the procedure of choice in dichorionic pregnancie

ISSN:0148-7299    

DOI:10.1002/ajmg.1320310211

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

年代:1988

数据来源: WILEY