ISSN:0148-7299    

DOI:10.1002/ajmg.1320170402

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

年代:1984

数据来源: WILEY

摘要:

AbstractA newborn infant was found to have multiple congenital anomalies including bilateral cleft of lip and palate, intrauterine growth retardation, microcephaly, tetralogy of Fallot, ambiguous external genitalia, and presence of male and female internal genitalia. Chromosome analysis showed a tandem duplication of part of the short arm of chromosome 1, resulting in a dup(1p31→35). The karyotype designation is 46,XY,dir dup(pter→31::p35→p31::p31→qter). The exact nature of the chromosome anomaly was clarified with use of several banding

ISSN:0148-7299    

DOI:10.1002/ajmg.1320170403

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

年代:1984

数据来源: WILEY

摘要:

AbstractA luminol enhanced chemiluminescence micromethod has been adapted for use in prenatal diagnosis of chronic granulomatous disease (CGD). After validation of the assay in normal adults, newborns, fetuses, CGD carriers, and CGD patients, the fetuses of two pregnant CGD carriers were tested after fetoscopic aspiration of fetal blood. Normal neutrophil chemiluminescence and nitroblue tetrazolium slide tests were followed by delivery of two healthy infants whose normality was confirmed. Amniocytes proved useless for the prenatal diagnosis of CGD. They were found to have negligible nitroblue tetrazolium reduction, oxygen metabolism, and oxygen dependence.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320170404

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

年代:1984

数据来源: WILEY

摘要:

AbstractTwenty‐five Scottish and 22 Canadian patients with hemophilia, and 15 Scottish and 14 Canadian carriers of hemophilia participated in the study. They were interviewed with respect to their experience of and attitudes to genetic counseling, perceptions of the counselor's role, and satisfaction with existing care for families with hemophilia. Most patients and carriers favor genetic counseling as part of general counseling offered to them by the hemophilia center and think that such counseling should include dealing with such issues as schooling, employment, emotions, and psychological problems. Prenatal testing and termination of pregnancy is at present unacceptable to most of the participants, although they do not object to the use of these methods in cases of illnesses more severe than hemophili

ISSN:0148-7299    

DOI:10.1002/ajmg.1320170405

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

年代:1984

数据来源: WILEY

摘要:

AbstractSeven individuals from 3 generations of a French‐Canadian family had various combinations of acral, renal, and ocular defects. Acral anomalies varied from mild hypoplastic distal portion of the thumbs, with limited motion at IP joint, to severe thumb hypoplasia and preaxial polydactyly. Renal anomalies varied from mild malrotation to crossed renal ectopia without fusion; other urinary tract anomalies were vesicoureteral reflux and bladder diverticula. Ocular manifestations varied from complete eye coloboma, coloboma of the optic nerve, ptosis, and Duane anomaly. The syndrome seems to be an autosomal dominant trait with high penetrance and variable expressivity. Dermatoglyphics were abnormal; in addition to a triradiust' present in all, some also had various combinations of high TRC, thenar exit of A line, and rare patterns in interdigital area I

ISSN:0148-7299    

DOI:10.1002/ajmg.1320170406

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

年代:1984

数据来源: WILEY

摘要:

AbstractDistal limb myopathy with onset at 30 years, followed by the development of progressive ptosis, external ophthalmoplegia, and pharyngeal myopathy was observed in a 37‐year‐old Melanesian man from the Gulf Province of Papua New Guinea. Ptosis and external ophthalmoplegia without apparent distal muscle involvement or dysphagia with onset at 35 and 25 years of age, respectively, were noted in the patient's 44‐ and 27‐year‐old sisters. Autosomal recessive inheritance appears to be likely in this family. This myopathic syndrome has not previously been reported in Me

ISSN:0148-7299    

DOI:10.1002/ajmg.1320170407

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

年代:1984

数据来源: WILEY

摘要:

AbstractA couple is presented who underwent prenatal counseling and amniocentesis for sex determination because the wife was an obligate carrier of hemophilia B. Although the fetus was determined to be male, the parents elected not to have further testing to determine if he had hemophilia or not.The difficulties in the in utero diagnosis of hemophilia B are presented and discussed. In addition, the moral reasoning and decision‐making process that this couple went through regarding the decision not to have further fetal testing and to continue the pregnancy is presented and analyzed. These moral decisions appear to be based on family and personal ties, and bonding to the fetus after perception of fetal movement. They combine considerations of the duties and rights involved in such situations, and attend to the anticipated consequences as wel

ISSN:0148-7299    

DOI:10.1002/ajmg.1320170408

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

年代:1984

数据来源: WILEY

摘要:

AbstractSome Mendelian disorders (Huntington chorea, hereditary polyposis coli) are not manifest at birth show a distribution in the age of onset. Patients at risk fall into three groups. In type I, they are affected when first examined. In type II, they are not affected at one visit, but are at a later visit. Those of type III (who comprise an indistinguishable mixture of those who have, and those who have not, inherited the gene) are never found to be affected. This paper posits a model that the age of onset is logistic. (It is a degenerate bingo model in which competing causes of death may be ignored.) The statistical properties of maximum likelihood estimation (MLE) are explored by Monte Carlo simulation of this logistic function with known arbitrary parameters. Two schemes are used: point‐prevalence (or synchronic) data of types I and III, and piecewise longitudinal (diachronic) data; this allows all three types to be included. Samples of various sizes between 25 and 100 are used. While estimates of the parameters are positively biased (especially with small samples), the estimate of the mean appears to be consistent, almost unbiased, and fairly precise, though somewhat larger than the estimates from the lower bound (a fact that calls for some caution in interpreting actual data). The MLE was applied to 109 patients with the Gardner syndrome (GS); measures of variability found by applying MLE to four random subsets of 25 each were compared against the asymptotic estimates. The analysis was also applied to 36 persons with familial polyposis coli (FPC). The mean age of onset in GS and FPC was similar, and since they are rather earlier than is currently believed, it is recommended that regular supervision be started at not later than 10 years of ag

ISSN:0148-7299    

DOI:10.1002/ajmg.1320170409

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

年代:1984

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320170410

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

年代:1984

数据来源: WILEY

摘要:

AbstractThree unrelated stillborn infants (cases 1–3) are presented here with a distinct constellation of multiple anomalies: namely, multiple pterygia involving chin‐to‐sternum, cervical, axillary, antecubital, crural and/or popliteal areas, flexion contractures of multiple joints, small chest, hydrops, characteristic abnormal facial appearance with hypertelorism, markedly flattened nasal bridge with hypoplastic nasal alae, cleft palate, micrognathia, apparently low‐set malformed ears, short neck with a cystic hygroma at the back of the neck and head, and pulmonary and cardiac hypoplasia.Radiographic studies, in addition, showed scalp edema, microbrachycephaly, flattened mandibular angle, lack of normal curvature at the cervico‐thoracic junction, marked bony fusion of posterior spinous processes of older fetuses (cases 1, 2), thin crowded ribs, markedly hypoplastic scapulae, hypoplastic iliac wings, ischia and pubic bones, undermodeling of tubular bones, and radio‐ulnar synostosis.Histologic studies of the skeletal system showed cartilaginous and bony fusion of the spinous processes (cases 1, 2), fusion of epiphyseal cartilages of distal humerus and proximal ulna, a poorly developed joint space, an abnormal growth plate, and weak safranin staining ofthe resting cartilages (cases 1, 2).To the best of our knowledge, this pattern of anomalies constitutes a previously undescribed syndrome. Prenatal diagnosis of this entity is possible by ultrasonographic studies on the basis of nonimmune fetal hydrops, a cystic hygroma at the back of the head and neck, diminished fetal activity, short and fixed limbs, and/or maternal hydramnios. Three additional cases (cases 4–6) are also presented to show a possible heterogeneity of

ISSN:0148-7299    

DOI:10.1002/ajmg.1320170411

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

年代:1984

数据来源: WILEY